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1156 genes,
carrier frequencies.

Carrier frequency varies dramatically across populations - Tay-Sachs is 1 in 30 in Ashkenazi Jewish ancestry but 1 in 250 in the general population; cystic fibrosis is 1 in 25 in Caucasian Europeans but 1 in 94 in East Asian. This page lists population-stratified carrier rates for every gene Fulgent's Beacon panel covers, with detection rate and post-test residual risk where published.

1,314 rows · 9 populations · 1071 conditions · 135 additional panel-only genes

1,314 rows
Condition Inh. Population Panels
A4GALT Congenital disorder of glycosylation, A4GALT-related AR General Population <1 in 500 Carrier Screening
AAAS Achalasia-addisonianism-alacrimia syndrome AR General Population <1 in 500 Carrier Screening
AARS2 Progressive leukoencephalopathy with ovarian failure AR General Population <1 in 500 Carrier Screening
ABAT GABA-Transaminase Deficiency AR General Population <1 in 500 Carrier Screening
ABCA12 Congenital ichthyosis, ABCA12-related AR General Population <1 in 500 Carrier Screening
ABCA3 Surfactant metabolism dysfunction, pulmonary 3 AR General Population 1 in 116 Carrier Screening
ABCA4 Stargardt disease AR General Population 1 in 51 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR Ashkenazi Jewish Population 1 in 20 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR Middle Eastern Population 1 in 24 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR South Asian Population 1 in 36 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR Latino / Admixed American Population 1 in 81 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR European (Non-Finnish) Population 1 in 126 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR Finnish Population 1 in 280 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR African / African American Population 1 in 415 Carrier Screening
ABCA4 Cone-rod dystrophy (ABCA4) AR East Asian Population 1 in 548 Carrier Screening
ABCB11 Progressive familial intrahepatic cholestasis AR General Population 1 in 112 Carrier Screening
ABCB4 Progressive familial intrahepatic cholestasis AR General Population <1 in 500 Carrier Screening
ABCC2 Dubin-Johnson syndrome AR General Population <1 in 500 Carrier Screening
ABCC6 Pseudoxanthoma Elasticum AR General Population 1 in 79 Carrier Screening
ABCC8 Familial hyperinsulinism AR General Population 1 in 112 Carrier ScreeningNewborn
ABCD1 X-linked Adrenoleukodystrophy XL General Population 1 in 21,000 Carrier ScreeningNewborn
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type AR General Population <1 in 500 Carrier Screening
ABCG5 Sitosterolemia 2 AR General Population <1 in 500 Carrier ScreeningNewborn
ACAD8 Isobutyryl-CoA dehydrogenase deficiency AR General Population 1 in 270 Carrier ScreeningNewborn
ACAD9 Acyl-CoA dehydrogenase-9 (ACAD9) deficiency AR General Population <1 in 500 Carrier Screening
ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency AR General Population 1 in 69 Carrier ScreeningNewborn
ACADS Short-chain acyl-coA dehydrogenase (SCAD) deficiency AR General Population 1 in 85 Carrier Screening
ACADSB Short branched chain acyl-CoA dehydrogenase (SBCAD) deficiency AR General Population 1 in 368 Carrier Screening
ACADVL Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency AR General Population 1 in 118 Carrier ScreeningNewborn
ACADVL Very long-chain acyl-CoA dehydrogenase deficiency AR European (Non-Finnish) Population 1 in 161 Carrier ScreeningNewborn
ACADVL Very long-chain acyl-CoA dehydrogenase deficiency AR East Asian Population 1 in 203 Carrier ScreeningNewborn
ACADVL Very long-chain acyl-CoA dehydrogenase deficiency AR Latino / Admixed American Population 1 in 360 Carrier ScreeningNewborn
ACADVL Very long-chain acyl-CoA dehydrogenase deficiency AR Finnish Population 1 in 411 Carrier ScreeningNewborn
ACADVL Very long-chain acyl-CoA dehydrogenase deficiency AR African / African American Population 1 in 638 Carrier ScreeningNewborn
ACADVL Very long-chain acyl-CoA dehydrogenase deficiency AR Ashkenazi Jewish Population 1 in 2,613 Carrier ScreeningNewborn
ACAT1 3-ketothiolase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
ACOX1 Peroxisomal acyl-CoA oxidase deficiency AR General Population <1 in 500 Carrier Screening
ACP5 Spondyloenchondrodysplasia with immune dysregulation AR General Population < 1 in 500 Carrier Screening
ACSF3 Combined malonic and methylmalonic aciduria AR General Population <1 in 500 Carrier Screening
ACSL4 X-linked intellectual disability, ACSL4-related XL General Population < 1 in 50,000 Carrier Screening
ACVRL1 Hereditary haemorrhagic telangiectasia type 1 AR European (Non-Finnish) Population 1 in 277,994 Newborn
ADA Adenosine deaminase deficiency AR General Population 1 in 224 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR Latino / Admixed American Population 1 in 508 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR African / African American Population 1 in 531 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR Middle Eastern Population 1 in 1,442 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR European (Non-Finnish) Population 1 in 3,630 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR South Asian Population 1 in 4,313 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR Ashkenazi Jewish Population 1 in 6,534 Carrier ScreeningNewborn
ADA SCID (ADA deficiency) AR East Asian Population 1 in 9,925 Carrier ScreeningNewborn
ADA2 ADA2-related disorders AR General Population 1 in 236 Carrier Screening
ADAMTS13 Familial Thrombotic Thrombocytopenic Purpura AR General Population 1 in 77 Carrier ScreeningNewborn
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type AR General Population <1 in 500 Carrier Screening
ADAMTSL4 ADAMTSL4-related eye disorders AR General Population < 1 in 500 Carrier Screening
ADGRG1 Bilateral frontoparietal polymicrogyria AR General Population <1 in 500 Carrier Screening
ADGRV1 Usher syndrome, type IIC AR General Population <1 in 500 Carrier Screening
ADK Hypermethioninemia due to adenosine kinase deficiency AR General Population <1 in 500 Carrier Screening
AFF2 Fragile XE syndrome XL General Population <1 in 50,000 Carrier Screening
AGA Aspartylglucosaminuria AR General Population <1 in 500 Carrier Screening
AGL Glycogen storage disease type III AR General Population 1 in 158 Carrier ScreeningNewborn
AGPAT2 Congenital generalized lipodystrophy, type 1 AR General Population <1 in 500 Carrier Screening
AGPS Rhizomelic chondrodysplasia punctata, type 3 AR General Population <1 in 500 Carrier Screening
AGRN Congenital myasthenic syndrome 6 AR General Population <1 in 500 Carrier Screening
AGXT Primary hyperoxaluria type 1 AR General Population 1 in 120 Carrier ScreeningNewborn
AHCY Hypermethioninemia due to deficiency of S-adenosylhomocysteine hydrolase AR General Population <1 in 500 Carrier Screening
AHI1 Joubert syndrome, AHI1-related AR General Population 1 in 448 Carrier Screening
AICDA Immunodeficiency with Hyper IgM syndrome AR General Population <1 in 500 Carrier Screening
AIFM1 AIFM1-Related Disorders XL General Population < 1 in 50,000 Carrier Screening
AIMP1 Hypomyelinating leukodystrophy 3 AR General Population <1 in 500 Carrier Screening
AIMP2 Hypomyelinating leukodystrophy 17 AR General Population <1 in 500 Carrier Screening
AIPL1 Childhood-onset severe retinal dystrophy, AIPL1-related AR General Population 1 in 409 Carrier Screening
AIPL1 AR European (Non-Finnish) Population 1 in 738 Carrier Screening
AIPL1 AR African / African American Population 1 in 2,308 Carrier Screening
AIPL1 AR South Asian Population 1 in 2,537 Carrier Screening
AIPL1 AR East Asian Population 1 in 6,617 Carrier Screening
AIPL1 AR Finnish Population 1 in 11,467 Carrier Screening
AIRE Autoimmune polyendocrinopathy syndrome type I AR General Population 1 in 150 Carrier Screening
AK2 Reticular dysgenesis AR General Population <1 in 500 Carrier Screening
AKR1D1 Congenital Bile Acid Synthesis Defect 2 AR General Population <1 in 500 Carrier ScreeningNewborn
ALDH3A2 Sjögren-Larsson syndrome AR General Population 1 in 250 Carrier Screening
ALDH4A1 Hyperprolinemia type II AR General Population <1 in 500 Carrier Screening
ALDH7A1 Pyridoxine-dependent epilepsy AR General Population <1 in 500 Carrier ScreeningNewborn
ALDOB Hereditary fructose intolerance AR General Population 1 in 122 Carrier ScreeningNewborn
ALG1 Congenital disorder of glycosylation type Ik AR General Population <1 in 500 Carrier Screening
ALG12 Congenital disorder of glycosylation type Ig AR General Population <1 in 500 Carrier Screening
ALG13 ALG13-related conditions XL General Population <1 in 50,000 Carrier Screening
ALG3 Congenital disorder of glycosylation type Id AR General Population <1 in 500 Carrier Screening
ALG5 No carrier-frequency data published AD - See gene profile → PKD
ALG6 Congenital disorder of glycosylation type Ic AR General Population <1 in 500 Carrier Screening
ALG9 No carrier-frequency data published AR - See gene profile → PKD
ALMS1 Alstrom syndrome AR General Population 1 in 500 Carrier Screening
ALOX12B Autosomal recessive, congenital, ichthyosis 2 AR General Population <1 in 500 Carrier Screening
ALOXE3 Congenital ichthyosiform erythroderma AR General Population <1 in 500 Carrier Screening
ALPL Hypophosphatasia AR General Population 1 in 158 Carrier ScreeningNewborn
AMH Persistent mullerian duct syndrome, type I AR General Population <1 in 500 Carrier Screening
AMHR2 Persistent mullerian duct syndrome, type II AR General Population <1 in 500 Carrier Screening
AMN Megaloblastic anemia 1 AR General Population <1 in 500 Carrier Screening
AMPD2 Pontocerebellar hypoplasia type 9 AR General Population <1 in 500 Carrier Screening
AMT Glycine encephalopathy AR General Population 1 in 373 Carrier Screening
ANK1 No carrier-frequency data published AR - See gene profile Newborn
ANO10 Spinocerebellar ataxia 10 AR General Population 1 in 93 Carrier Screening
ANO5 Limb girdle muscular dystrophy, type 2L AR General Population <1 in 500 Carrier Screening
ANO5 AR Finnish Population 1 in 86 Carrier Screening
ANO5 AR Middle Eastern Population 1 in 125 Carrier Screening
ANO5 AR European (Non-Finnish) Population 1 in 156 Carrier Screening
ANO5 AR Latino / Admixed American Population 1 in 429 Carrier Screening
ANO5 AR Ashkenazi Jewish Population 1 in 766 Carrier Screening
ANO5 AR African / African American Population 1 in 1,152 Carrier Screening
ANO5 AR South Asian Population 1 in 8,609 Carrier Screening
ANTXR2 Hyaline fibromatosis syndrome AR General Population <1 in 500 Carrier Screening
AP1S1 MEDNIK syndrome AR General Population <1 in 500 Carrier Screening
AP1S2 X-linked Intellectual disability, AP1S2-related XL General Population <1 in 50,000 Carrier Screening
AP3B1 Hermansky-Pudlak syndrome 2 AR General Population <1 in 500 Carrier Screening
AP3D1 Hermansky-Pudlak syndrome 10 AR General Population <1 in 500 Carrier Screening
AP4M1 Spastic paraplegia 50 AR General Population <1 in 500 Carrier Screening
APC Familial adenomatous polyposis European (Non-Finnish) Population 1 in 29,242 Cancer Screening
APOPT1 Mitochondrial complex IV deficiency AR General Population <1 in 500
AQP2 Diabetes insipidus, nephrogenic, 2 AR General Population <1 in 500 Carrier ScreeningNewborn
AR Androgen insensitivity syndrome XL General Population 1 in 14,286 Carrier Screening
ARG1 Arginase deficiency AR General Population 1 in 296 Carrier ScreeningNewborn
ARHGEF9 X-linked intellectual disability, ARHGEF9-related XL General Population < 1 in 50,000 Carrier Screening
ARL13B Joubert syndrome, ARL13B-related AR General Population <1 in 500 Carrier Screening
ARL2BP ARL2BP-related ciliopathies AR General Population <1 in 500 Carrier Screening
ARL6 ARL6-related disorders AR General Population <1 in 500 Carrier Screening
ARNT2 Webb-Dattani syndrome AR General Population <1 in 500 Carrier Screening
ARSA Metachromatic leukodystrophy AR General Population 1 in 100 Carrier ScreeningNewborn
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) AR General Population 1 in 250 Carrier ScreeningNewborn
ARSE Chondrodysplasia punctata type 1, X-linked XL General Population 1 in 250,000 Carrier Screening
ARX X-linked intellectual disability, ARX-related XL General Population <1 in 50,000 Carrier Screening
ASAH1 ASAH1-Related Disorders AR General Population <1 in 500 Carrier Screening
ASL Argininosuccinate lyase deficiency AR General Population 1 in 132 Carrier ScreeningNewborn
ASNS Asparagine synthetase deficiency AR General Population <1 in 500 Carrier Screening
ASPA Canavan disease AR General Population 1 in 300 Carrier Screening
ASS1 Citrullinemia AR General Population 1 in 119 Carrier ScreeningNewborn
ASXL1 No carrier-frequency data published Polygenic - See gene profile → KNOVA NIPT
ATM Ataxia-telangiectasia AR General Population 1 in 100 Carrier ScreeningCancer Screening
ATM Ataxia-telangiectasia AR European (Non-Finnish) Population 1 in 591 Carrier ScreeningCancer Screening
ATM Ataxia-telangiectasia AR South Asian Population 1 in 1,725 Carrier ScreeningCancer Screening
ATM Ataxia-telangiectasia AR East Asian Population 1 in 6,607 Carrier ScreeningCancer Screening
ATM Ataxia-telangiectasia AR Latino / Admixed American Population 1 in 7,453 Carrier ScreeningCancer Screening
ATM Ataxia-telangiectasia AR African / African American Population 1 in 10,354 Carrier ScreeningCancer Screening
ATM Ataxia-telangiectasia AR Finnish Population 1 in 13,355 Carrier ScreeningCancer Screening
ATP13A2 Kufor-Rakeb syndrome AR General Population <1 in 500 Carrier Screening
ATP1A2 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies AR General Population <1 in 500 Carrier Screening
ATP5MD Mitochondrial complex V deficiency AR General Population <1 in 500 Carrier Screening
ATP6AP1 Congenital disorder of glycosylation type IIs XL General Population < 1 in 50,000 Carrier Screening
ATP6V0A2 Cutis laxa, type IIA AR General Population <1 in 500 Carrier Screening
ATP6V0A4 Renal tubular acidosis AR General Population <1 in 500 Carrier Screening
ATP6V1B1 Renal tubular acidosis with deafness AR General Population <1 in 500 Carrier Screening
ATP6V1E1 Cutis laxa, type IIC AR General Population <1 in 500 Carrier Screening
ATP7A Menkes disease XL General Population 1 in 50,000 Carrier ScreeningNewborn
ATP7B Wilson disease AR General Population 1 in 87 Carrier ScreeningNewborn
ATP8A2 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 AR General Population <1 in 500 Carrier Screening
ATP8B1 Progressive familial intrahepatic cholestasis AR General Population <1 in 500 Carrier Screening
ATRX No carrier-frequency data published XL - See gene profile Carrier Screening
AVPR2 Nephrogenic diabetes insipidus XL General Population <1 in 50,000 Carrier ScreeningNewborn
AXIN2 No carrier-frequency data published AD - See gene profile → Cancer Screening
B3GALT6 Congenital disorder of glycosylation, B3GALT6-related AR General Population <1 in 500 Carrier Screening
B4GALT1 Congenital disorder of glycosylation type IId AR General Population <1 in 500 Carrier Screening
B9D1 Joubert syndrome 27 AR General Population <1 in 500 Carrier Screening
B9D2 Meckel syndrome 10 AR General Population <1 in 500 Carrier Screening
BAP1 No carrier-frequency data published AD - See gene profile → Cancer Screening
BARD1 No carrier-frequency data published AD - See gene profile → Cancer Screening
BBS1 Bardet-Biedl syndrome type 1 AR General Population 1 in 367 Carrier Screening
BBS10 Bardet-Biedl syndrome type 10 AR General Population 1 in 395 Carrier Screening
BBS12 Bardet-Biedl syndrome type 12 AR General Population 1 in 791 Carrier Screening
BBS2 BBS2-related ciliopathies AR General Population 1 in 621 Carrier Screening
BBS4 Bardet-Biedl syndrome 4 AR General Population <1 in 500 Carrier Screening
BBS5 Bardet-Biedl syndrome 5 AR General Population <1 in 500 Carrier Screening
BBS7 Bardet-Biedl syndrome 7 AR General Population <1 in 500 Carrier Screening
BBS9 Bardet-Biedl syndrome 9 AR General Population <1 in 500 Carrier Screening
BCAP31 Deafness, dystonia, and cerebral hypomyelination, X-linked XL General Population <1 in 50,000 Carrier Screening
BCHE Butyrylcholinesterase deficiency AR General Population 1 in 28 Carrier Screening
BCKDHA Maple syrup urine disease type Ia AR General Population 1 in 321 Carrier ScreeningNewborn
BCKDHB Maple syrup urine disease type Ib AR General Population 1 in 364 Carrier ScreeningNewborn
BCS1L Mitochondrial complex III deficiency AR General Population <1 in 500 Carrier Screening
BLM Bloom syndrome AR General Population 1 in 800 Carrier Screening
BLOC1S3 Hermansky-Pudlak syndrome 8 AR General Population <1 in 500 Carrier Screening
BLOC1S6 Hermansky-Pudlak syndrome 9 AR General Population <1 in 500 Carrier Screening
BMP1 Osteogenesis imperfecta, type XIII AR General Population <1 in 500 Carrier Screening
BMPER Diaphanospondylodysostosis AR General Population <1 in 500 Carrier Screening
BMPR1A No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewborn
BRAF No carrier-frequency data published AD - See gene profile → KNOVA NIPT
BRAT1 BRAT1-related disorders AR General Population <1 in 500 Carrier Screening
BRCA1 Hereditary breast and ovarian cancer syndrome Ashkenazi Jewish Population 1 in 95 Cancer Screening
BRCA1 Hereditary breast and ovarian cancer syndrome European (Non-Finnish) Population 1 in 831 Cancer Screening
BRCA1 Hereditary breast and ovarian cancer syndrome South Asian Population 1 in 845 Cancer Screening
BRCA1 Hereditary breast and ovarian cancer syndrome East Asian Population 1 in 1,239 Cancer Screening
BRCA1 Hereditary breast and ovarian cancer syndrome Latino / Admixed American Population 1 in 1,490 Cancer Screening
BRCA1 Hereditary breast and ovarian cancer syndrome African / African American Population 1 in 2,588 Cancer Screening
BRCA1 Hereditary breast and ovarian cancer syndrome Finnish Population 1 in 2,669 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome Ashkenazi Jewish Population 1 in 92 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome European (Non-Finnish) Population 1 in 345 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome Latino / Admixed American Population 1 in 448 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome African / African American Population 1 in 548 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome East Asian Population 1 in 599 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome Finnish Population 1 in 834 Cancer Screening
BRCA2 Hereditary breast and ovarian cancer syndrome South Asian Population 1 in 940 Cancer Screening
BRIP1 Fanconi anemia group J AR General Population <1 in 500 Carrier ScreeningCancer Screening
BRWD3 X-linked intellectual disability, BRWD3-related XL General Population <1 in 50,000 Carrier Screening
BSND Bartter syndrome type 4a AR General Population <1 in 500 Carrier Screening
BTD Biotinidase deficiency AR General Population 1 in 124 Carrier ScreeningNewborn
BTK X-linked agammaglobulinemia XL General Population <1 in 50,000 Carrier ScreeningNewborn
C19ORF12 Mitochondrial membrane protein- associated neurodegeneration AR General Population <1 in 500
C19ORF70 Combined oxidative phosphorylation deficiency, C19orf70-related AR General Population <1 in 500
C19orf12 No carrier-frequency data published Various - See gene profile → Carrier Screening
C2CD3 Joubert Syndrome and Related Disorders, C2CD3-Related AR General Population <1 in 500 Carrier Screening
C8ORF37 Bardet-Biedl Syndrome 21 AR General Population <1 in 500
CAD Early Infantile Epileptic Encephalopathy 50 AR General Population <1 in 500 Carrier Screening
CANT1 Desbuquois dysplasia 1 AR General Population <1 in 500 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR General Population <1 in 500 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR Finnish Population 1 in 49 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR Middle Eastern Population 1 in 160 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR Ashkenazi Jewish Population 1 in 187 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR Latino / Admixed American Population 1 in 258 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR East Asian Population 1 in 280 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR African / African American Population 1 in 441 Carrier Screening
CAPN3 Limb-girdle muscular dystrophy type 2A AR South Asian Population 1 in 708 Carrier Screening
CASP14 Congenital Ichthyosis 12 AR General Population <1 in 500 Carrier Screening
CASQ2 Catecholaminergic polymorphic ventricular tachycardia AR General Population 1 in 224 Carrier Screening
CASR Neonatal hyperparathyroidism AR General Population <1 in 500 Carrier ScreeningNewborn
CAVIN1 Congenital Generalized Lipodystrophy 4 AR General Population <1 in 500 Carrier Screening
CBL No carrier-frequency data published AD - See gene profile → KNOVA NIPT
CBS Homocystinuria due to cystathionine beta-synthase deficiency AR General Population 1 in 224 Carrier ScreeningNewborn
CC2D1A Autosomal recessive intellectual developmental disorder 3 AR General Population <1 in 500 Carrier Screening
CC2D2A Joubert syndrome 9 AR General Population 1 in 201 Carrier Screening
CCDC103 Primary ciliary dyskinesia, type 17 AR General Population 1 in 316 Carrier Screening
CCDC151 Primary ciliary dyskinesia, type 30 AR General Population 1 in 365 Carrier Screening
CCDC174 Hypotonia, infantile, with psychomotor developmental delay AR General Population <1 in 500 Carrier Screening
CCDC39 Primary ciliary dyskinesia, type 14 AR General Population 1 in 211 Carrier Screening
CCDC8 3-M Syndrome AR General Population <1 in 500 Carrier Screening
CCDC88C Congenital hydrocephalus 1 AR General Population 1 in 137 Carrier Screening
CD247 Severe Combined Immunodeficiency AR General Population <1 in 500 Carrier Screening
CD3D Severe Combined Immunodeficiency AR General Population <1 in 500 Carrier ScreeningNewborn
CD3E Severe Combined Immunodeficiency AR General Population <1 in 500 Carrier ScreeningNewborn
CD3G Severe Combined Immunodeficiency AR General Population <1 in 500 Carrier Screening
CD40 Immunodeficiency with Hyper IgM syndrome AR General Population <1 in 500 Carrier Screening
CD40LG Hyper IgM syndrome, X-linked XL General Population 1 in 50,000 Carrier ScreeningNewborn
CD59 CD59 deficiency AR General Population <1 in 500 Carrier Screening
CD8A Familial CD8 Deficiency AR General Population <1 in 500 Carrier Screening
CD96 No carrier-frequency data published - See gene profile → KNOVA NIPT
CDAN1 Dyserythropoietic congenital anemia, type Ia AR General Population <1 in 500 Carrier Screening
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 AR General Population <1 in 500 Carrier Screening
CDH1 Hereditary diffuse gastric cancer South Asian Population 1 in 21,562 Cancer Screening
CDH1 Hereditary diffuse gastric cancer European (Non-Finnish) Population 1 in 30,674 Cancer Screening
CDH23 Usher syndrome, type 1D AR General Population 1 in 285 Carrier ScreeningNewborn
CDH23 Usher syndrome type 1 AR East Asian Population 1 in 196 Carrier ScreeningNewborn
CDH23 Usher syndrome type 1 AR African / African American Population 1 in 1,727 Carrier ScreeningNewborn
CDH23 Usher syndrome type 1 AR South Asian Population 1 in 10,746 Carrier ScreeningNewborn
CDH23 Usher syndrome type 1 AR European (Non-Finnish) Population 1 in 50,520 Carrier ScreeningNewborn
CDKL5 No carrier-frequency data published XL - See gene profile → KNOVA NIPT
CDKN1B No carrier-frequency data published Various - See gene profile → Cancer Screening
CDKN2A No carrier-frequency data published AD - See gene profile → Cancer Screening
CENPJ CENPJ-related disorders AR General Population <1 in 500 Carrier Screening
CEP104 Joubert syndrome 25 AR General Population <1 in 500 Carrier Screening
CEP120 Joubert Syndrome and Related Disorders, CEP120-Related AR General Population <1 in 500 Carrier Screening
CEP152 CEP152-related disorders AR General Population <1 in 500 Carrier Screening
CEP290 CEP290-related Ciliopathies AR General Population 1 in 190 Carrier Screening
CEP41 Joubert Syndrome and Related Disorders, CEP41-Related AR General Population <1 in 500 Carrier Screening
CERKL Retinitis pigmentosa 26 AR General Population 1 in 148 Carrier Screening
CERS3 Congenital ichthyosis 9 AR General Population <1 in 500 Carrier Screening
CFH Complement factor H deficiency AR General Population <1 in 500 Carrier Screening
CFTR Cystic Fibrosis AR General Population 1 in 32 Carrier ScreeningNewborn
CFTR Cystic fibrosis AR Finnish Population 1 in 72 Carrier ScreeningNewborn
CFTR Cystic fibrosis AR South Asian Population 1 in 72 Carrier ScreeningNewborn
CFTR Cystic fibrosis AR Middle Eastern Population 1 in 113 Carrier ScreeningNewborn
CHAT Congenital myasthenic syndrome 6 AR General Population 1 in 197 Carrier Screening
CHD7 No carrier-frequency data published Various - See gene profile → KNOVA NIPT
CHEK2 No carrier-frequency data published AD - See gene profile → Cancer Screening
CHM Choroideremia XL General Population 1 in 25,000 Carrier Screening
CHMP1A Pontocerebellar hypoplasia type 8 AR General Population <1 in 500 Carrier Screening
CHRNB1 Congenital myasthenic syndrome 2C AR General Population <1 in 500 Carrier Screening
CHRNE Congenital myasthenic syndrome AR General Population 1 in 408 Carrier Screening
CHRNG Multiple pterygium syndrome AR General Population <1 in 500 Carrier Screening
CHST6 Macular corneal dystrophy, CHST6-related AR General Population 1 in 79 Carrier Screening
CIB2 Nonsyndromic hearing loss 48 AR General Population <1 in 500 Carrier Screening
CIITA Bare lymphocyte syndrome, type II AR General Population <1 in 500 Carrier ScreeningNewborn
CLCF1 Crisponi cold-induced sweating syndrome 2 AR General Population <1 in 500 Carrier Screening
CLCN1 Autosomal recessive congenital myotonia AR General Population 1 in 176 Carrier Screening
CLCN5 Dent disease XL General Population <1 in 500 Carrier Screening
CLCNKB Bartter syndrome type 3 AR General Population <1 in 500 Carrier Screening
CLN3 Neuronal ceroid lipofuscinosis AR General Population 1 in 230 Carrier Screening
CLN5 Neuronal ceroid lipofuscinosis 5 AR General Population <1 in 500 Carrier Screening
CLN6 Neuronal ceroid lipofuscinosis, CLN6-related AR General Population <1 in 500 Carrier Screening
CLN8 Neuronal ceroid lipofuscinosis, CLN8-related AR General Population <1 in 500 Carrier Screening
CLP1 Pontocerebellar hypoplasia type 10 AR General Population <1 in 500 Carrier Screening
CLRN1 Usher syndrome, type 3A AR General Population 1 in 500 Carrier Screening
CLRN2 Deafness, autosomal recessive 117 AR General Population < 1 in 500 Carrier Screening
CNGA1 Retinitis Pigmentosa, CNGA1-related AR General Population 1 in 210 Carrier Screening
CNGA3 CNGA3-related retinopathy AR General Population <1 in 500 Carrier Screening
CNGB1 Retinitis Pigmentosa, CNGB1-related AR General Population 1 in 296 Carrier Screening
CNGB3 Achromatopsia AR General Population 1 in 87 Carrier Screening
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome AR General Population <1 in 500 Carrier Screening
COA7 Spinocerebellar ataxia with axonal neuropathy 3 AR General Population <1 in 500 Carrier Screening
COASY Pontocerebellar hypoplasia type 12 AR General Population <1 in 500 Carrier Screening
COG5 Congenital disorder of glycosylation type IIi AR General Population <1 in 500 Carrier Screening
COG6 Congenital disorder of glycosylation type IIl AR General Population <1 in 500 Carrier Screening
COG7 Congenital disorder of glycosylation type IIe AR General Population <1 in 500 Carrier Screening
COL10A1 No carrier-frequency data published - See gene profile → KNOVA NIPT
COL11A1 Fibrochondrogenesis 1 AR General Population <1 in 500 Carrier ScreeningKNOVA NIPT
COL11A2 COL11A2-related disorders AR General Population <1 in 500 Carrier Screening
COL17A1 Junctional epidermolysis bullosa AR General Population <1 in 500 Carrier Screening
COL1A1 No carrier-frequency data published AD - See gene profile → NewbornKNOVA NIPT
COL1A2 No carrier-frequency data published AD - See gene profile → NewbornKNOVA NIPT
COL27A1 Steel syndrome AR General Population <1 in 500 Carrier Screening
COL2A1 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
COL4A3 Alport syndrome, COL4A3-related AR General Population 1 in 267 Carrier ScreeningNewborn
COL4A4 Alport syndrome, COL4A4-related AR General Population 1 in 267 Carrier ScreeningNewborn
COL4A5 Alport syndrome, COL4A5-related XL General Population 1 in 139 Carrier ScreeningNewborn
COL6A2 Ullrich congenital muscular dystrophy AR General Population <1 in 500 Carrier Screening
COL7A1 Dystrophic epidermolysis bullosa AR General Population 1 in 196 Carrier Screening
COLQ Congenital myasthenic syndrome 5 AR General Population <1 in 500 Carrier Screening
COQ4 Primary Coenzyme Q10 deficiency 7 AR General Population <1 in 500 Carrier Screening
CORO1A Immunodeficiency 8 AR General Population <1 in 500 Carrier Screening
COX10 Mitochondrial complex IV deficiency AR General Population <1 in 500 Carrier Screening
COX15 Mitochondrial complex IV deficiency AR General Population <1 in 500 Carrier Screening
COX20 Mitochondrial complex IV deficiency AR General Population <1 in 500 Carrier Screening
COX6B1 Mitochondrial complex IV deficiency AR General Population <1 in 500 Carrier Screening
CP Aceruloplasminemia AR General Population <1 in 500 Carrier Screening
CPLANE1 Joubert syndrome 17 AR General Population <1 in 500 Carrier Screening
CPS1 Carbamoylphosphate synthetase I deficiency AR General Population 1 in 570 Carrier ScreeningNewborn
CPT1A Carnitine palmitoyltransferase IA deficiency AR General Population 1 in 354 Carrier ScreeningNewborn
CPT2 Carnitine palmitoyltransferase II deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
CRADD Intellectual developmental disorder with variant lissencephaly AR General Population 1 in 500 Carrier Screening
CRB1 CRB1-related retinopathy AR General Population 1 in 104 Carrier Screening
CRB2 CRB2-related disorders AR General Population < 1 in 500 Carrier Screening
CRLF1 Crisponi cold-induced sweating syndrome 1 AR General Population <1 in 500 Carrier ScreeningNewborn
CRTAP Osteogenesis imperfecta, type VII AR General Population <1 in 500 Carrier Screening
CRYL1 No carrier-frequency data published - See gene profile → Carrier ScreeningNewborn
CSPP1 Joubert Syndrome and Related Disorders, CSPP1-Related AR General Population <1 in 500 Carrier Screening
CTC1 Cerebroretinal microangiopathy with calcifications and cysts 1 AR General Population <1 in 500 Carrier Screening
CTNS Cystinosis AR General Population 1 in 158 Carrier ScreeningNewborn
CTPS1 Immunodeficiency 24 AR General Population <1 in 500 Carrier Screening
CTSA Galactosialidosis AR General Population <1 in 500 Carrier Screening
CTSC Papillon-Lefevre syndrome AR General Population <1 in 500 Carrier Screening
CTSD Neuronal ceroid lipofuscinosis, CTSD-related AR General Population <1 in 500 Carrier Screening
CTSF Neuronal ceroid lipofuscinosis 13 AR General Population <1 in 500 Carrier Screening
CTSK Pycnodysostosis AR General Population <1 in 500 Carrier Screening
CUL4B X-linked intellectual disability, CUL4B-related XL General Population <1 in 50,000 Carrier Screening
CUL7 3-M syndrome 1 AR General Population <1 in 500 Carrier Screening
CWC27 Retinitis pigmentosa with or without skeletal anomalies AR General Population <1 in 500 Carrier Screening
CYBA Chronic granulomatous disease AR General Population 1 in 224 Carrier ScreeningNewborn
CYBB Chronic granulomatous disease, X-linked XL General Population 1 in 149,254 Carrier ScreeningNewborn
CYP11A1 Congenital adrenal insufficiency AR General Population 1 in 114 Carrier Screening
CYP11B1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency AR General Population 1 in 158 Carrier ScreeningNewborn
CYP11B2 Corticosterone methyloxidase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
CYP17A1 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency AR General Population 1 in 500 Carrier ScreeningNewborn
CYP19A1 Aromatase deficiency AR General Population <1 in 500 Carrier Screening
CYP1B1 Primary congenital glaucoma AR General Population 1 in 50 Carrier Screening
CYP1B1 Primary congenital glaucoma AR Middle Eastern Population 1 in 74 Carrier Screening
CYP1B1 Primary congenital glaucoma AR Latino / Admixed American Population 1 in 232 Carrier Screening
CYP1B1 Primary congenital glaucoma AR European (Non-Finnish) Population 1 in 263 Carrier Screening
CYP1B1 Primary congenital glaucoma AR East Asian Population 1 in 496 Carrier Screening
CYP1B1 Primary congenital glaucoma AR South Asian Population 1 in 636 Carrier Screening
CYP1B1 Primary congenital glaucoma AR Finnish Population 1 in 1,092 Carrier Screening
CYP1B1 Primary congenital glaucoma AR African / African American Population 1 in 1,220 Carrier Screening
CYP1B1 Primary congenital glaucoma AR Ashkenazi Jewish Population 1 in 6,491 Carrier Screening
CYP21A2 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Classical/Non-Classical) AR General Population 1 in 10 Carrier Screening
CYP21A2 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Classical) AR General Population 1 in 61 Carrier Screening
CYP27A1 Cerebrotendinous xanthomatosis AR General Population 1 in 500 Carrier ScreeningNewborn
CYP27B1 Vitamin D–dependent rickets, type 1 AR General Population 1 in 181 Carrier ScreeningNewborn
CYP2C19 No carrier-frequency data published Polygenic - See gene profile → pgx
CYP2D6 No carrier-frequency data published Polygenic - See gene profile → pgx
CYP3A5 No carrier-frequency data published Polygenic - See gene profile → pgx
CYP4F22 Congenital ichthyosis 5 AR General Population <1 in 500 Carrier Screening
CYP7B1 CYP7B1-Related Disorders AR General Population <1 in 500 Carrier Screening
DBT Maple syrup urine disease, type II AR General Population 1 in 481 Carrier ScreeningNewborn
DCAF17 Woodhouse-Sakati syndrome AR General Population <1 in 500 Carrier Screening
DCLRE1C Severe combined immunodeficiency with sensitivity to ionizing radiation AR General Population <1 in 500 Carrier ScreeningNewborn
DCLRE1C AR Ashkenazi Jewish Population 1 in 6,532 Carrier ScreeningNewborn
DCLRE1C AR African / African American Population 1 in 6,910 Carrier ScreeningNewborn
DCLRE1C AR Latino / Admixed American Population 1 in 7,432 Carrier ScreeningNewborn
DCLRE1C AR European (Non-Finnish) Population 1 in 8,049 Carrier ScreeningNewborn
DCLRE1C AR East Asian Population 1 in 9,923 Carrier ScreeningNewborn
DCLRE1C AR South Asian Population 1 in 21,565 Carrier ScreeningNewborn
DCX Lissencephaly, X-linked XL General Population 1 in 42,500 Carrier Screening
DDB2 Xeroderma pigmentosum, group E AR General Population <1 in 500 Carrier Screening
DDC Aromatic l-amino acid decarboxylase deficiency AR General Population <1 in 500 Carrier Screening
DDHD2 Spastic paraplegia 54 AR General Population <1 in 500 Carrier Screening
DDR2 Spondylometaepiphyseal dysplasia AR General Population <1 in 500 Carrier Screening
DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type AR General Population < 1 in 500 Carrier Screening
DDX11 Warsaw breakage syndrome AR General Population <1 in 500 Carrier Screening
DEGS1 Hypomyelinating leukodystrophy 18 AR General Population <1 in 500 Carrier Screening
DGAT1 Diarrhea 7 (protein-losing enteropathy type) AR General Population <1 in 500 Carrier Screening
DGUOK Mitochondrial DNA depletion syndrome 3 AR General Population <1 in 500 Carrier Screening
DHCR24 Desmosterolosis AR General Population <1 in 500 Carrier Screening
DHCR7 Smith-Lemli-Opitz syndrome AR General Population 1 in 30 Carrier Screening
DHDDS Retinitis pigmentosa 59 AR General Population 1 in 296 Carrier Screening
DIAPH1 Progressive microcephaly-seizures- cortical blindness-developmental delay syndrome AR General Population <1 in 500 Carrier Screening
DIS3L2 Perlman Syndrome AR General Population <1 in 500 Carrier Screening
DKC1 X-linked dyskeratosis congenita XL General Population <1 in 50,000 Carrier Screening
DLAT Pyruvate dehydrogenase E2 deficiency AR General Population <1 in 500 Carrier Screening
DLD Dihydrolipoamide dehydrogenase deficiency AR General Population 1 in 500 Carrier ScreeningNewborn
DLG3 X-linked intellectual disability, DLG3-related XL General Population <1 in 50,000 Carrier Screening
DLL3 Spondylocostal dysostosis 1 AR General Population <1 in 500 Carrier Screening
DMD Dystrophinopathies XL General Population 1 in 2,350 Carrier Screening
DNAH11 Primary ciliary dyskinesia (DNAH11-related) AR General Population 1 in 211 Carrier Screening
DNAH5 Primary ciliary dyskinesia, DNAH5-related AR General Population 1 in 142 Carrier Screening
DNAI1 Primary ciliary dyskinesia, DNAI1-related AR General Population 1 in 230 Carrier Screening
DNAI2 Primary ciliary dyskinesia, DNAI2-related AR General Population 1 in 447 Carrier Screening
DNAJB11 No carrier-frequency data published AR/AD - See gene profile → PKD
DNAL1 Primary ciliary dyskinesia, DNAL1-related AR General Population <1 in 500 Carrier Screening
DNMT3B ICF Syndrome AR General Population <1 in 500 Carrier Screening
DOCK8 Hyper-IgE syndrome due to DOCK8 deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
DOK7 Congenital myasthenic syndrome, DOK7-related AR General Population 1 in 472 Carrier Screening
DOLK Congenital disorder of glycosylation type Im AR General Population <1 in 500 Carrier Screening
DPAGT1 Congenital disorder of glycosylation type Ij AR General Population <1 in 500 Carrier Screening
DPYD Dihydropyrimidine dehydrogenase deficiency AR General Population <1 in 500 Carrier Screeningpgx
DSE Ehlers-Danlos syndrome, musculocontractural type 2 AR General Population <1 in 500 Carrier Screening
DTNBP1 Hermansky-Pudlak syndrome 7 AR General Population <1 in 500 Carrier Screening
DUOX2 Congenital hypothyroidism, DUOX2-related AR General Population 1 in 56 Carrier ScreeningNewborn
DUOXA2 Congenital hypothyroidism, DUOXA2-related AR General Population <1 in 500 Carrier ScreeningNewborn
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly AR General Population 1 in 68 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B AR General Population <1 in 500 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B (Miyoshi) AR African / African American Population 1 in 290 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B (Miyoshi) AR European (Non-Finnish) Population 1 in 322 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B (Miyoshi) AR Latino / Admixed American Population 1 in 520 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B (Miyoshi) AR South Asian Population 1 in 633 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B (Miyoshi) AR Ashkenazi Jewish Population 1 in 871 Carrier Screening
DYSF Limb-girdle muscular dystrophy type 2B (Miyoshi) AR Finnish Population 1 in 2,953 Carrier Screening
DZIP1L No carrier-frequency data published AR - See gene profile → PKD
EBP No carrier-frequency data published XLD - See gene profile → KNOVA NIPT
ECEL1 Distal arthrogryposis type 5D AR General Population <1 in 500 Carrier Screening
EDA Hypohidrotic ectodermal dysplasia XL General Population 1 in 14,167 Carrier Screening
EFEMP2 Cutis laxa, type 1B AR General Population <1 in 500 Carrier Screening
EFNB1 No carrier-frequency data published XLD - See gene profile → KNOVA NIPT
EIF2AK3 Wolcott-Rallison Syndrome AR General Population <1 in 500 Carrier Screening
EIF2AK4 Pulmonary venoocclusive disease 2 AR General Population <1 in 500 Carrier Screening
EIF2B1 EIF2B1-related leukoencephalopathy with vanishing white matter AR General Population <1 in 500 Carrier Screening
EIF2B2 EIF2B2-related leukoencephalopathy with vanishing white matter AR General Population <1 in 500 Carrier Screening
EIF2B3 EIF2B3-related leukoencephalopathy with vanishing white matter AR General Population <1 in 500 Carrier Screening
EIF2B4 EIF2B4-related leukoencephalopathy with vanishing white matter AR General Population <1 in 500 Carrier Screening
EIF2B5 EIF2B5-related leukoencephalopathy with vanishing white matter AR General Population <1 in 500 Carrier Screening
ELANE No carrier-frequency data published AD - See gene profile Newborn
ELP1 Familial Dysautonomia AR General Population 1 in 300 Carrier Screening
EMD Emery-Dreifuss muscular dystrophy XL General Population 1 in 81,967 Carrier Screening
EML1 Band heterotopia AR General Population <1 in 500 Carrier Screening
ENG Hereditary haemorrhagic telangiectasia type 1 AR European (Non-Finnish) Population 1 in 270,694 Newborn
EOGT Adams-Oliver syndrome 4 AR General Population <1 in 500 Carrier Screening
EPB42 Spherocytosis, type 5 AR General Population <1 in 500 Carrier ScreeningNewborn
EPCAM Congenital tufting enteropathy AR General Population 1 in 158 Carrier ScreeningCancer Screening
EPG5 EPG5-related disorder AR General Population <1 in 500 Carrier Screening
ERBB3 ERBB3 deficiency AR General Population <1 in 500 Carrier Screening
ERCC2 ERCC2-related disorders AR General Population 1 in 65 Carrier ScreeningNewborn
ERCC3 ERCC3-related photosensitivity AR General Population <1 in 500 Carrier Screening
ERCC4 ERCC4-related disorders AR General Population <1 in 500 Carrier Screening
ERCC5 Xeroderma Pigmentosa, group G AR General Population <1 in 500 Carrier ScreeningNewborn
ERCC6 ERCC6-related disorders AR General Population 1 in 500 Carrier Screening
ERCC6L2 Bone marrow failure syndrome 2 AR General Population <1 in 500 Carrier Screening
ERCC8 Cockayne syndrome type A AR General Population 1 in 822 Carrier Screening
ERF No carrier-frequency data published AD - See gene profile → KNOVA NIPT
ESCO2 Roberts syndrome AR General Population <1 in 500 Carrier Screening
ETFA Glutaric aciduria IIA AR General Population 1 in 500 Carrier ScreeningNewborn
ETFB Glutaric aciduria IIB AR General Population 1 in 500 Carrier ScreeningNewborn
ETFDH Glutaric aciduria IIC AR General Population 1 in 250 Carrier ScreeningNewborn
ETHE1 Ethylmalonic encephalopathy AR General Population <1 in 500 Carrier ScreeningNewborn
ETHE1 AR Latino / Admixed American Population 1 in 1,720 Carrier ScreeningNewborn
ETHE1 AR South Asian Population 1 in 4,792 Carrier ScreeningNewborn
ETHE1 AR African / African American Population 1 in 10,359 Carrier ScreeningNewborn
ETHE1 AR European (Non-Finnish) Population 1 in 19,857 Carrier ScreeningNewborn
EVC EVC-related bone growth disorders AR General Population 1 in 142 Carrier Screening
EVC2 EVC2-related bone growth disorders AR General Population 1 in 240 Carrier Screening
EXOSC3 Pontocerebellar hypoplasia type 1B AR General Population <1 in 500 Carrier Screening
EYS Retinitis pigmentosa 25 AR General Population 1 in 66 Carrier Screening
F11 Factor XI deficiency AR General Population 1 in 500 Carrier Screening
F2 Prothrombin-related conditions AR General Population 1 in 33 Carrier Screening
F5 Factor V deficiency AR General Population 1 in 36 Carrier Screening
F7 Factor VII deficiency AR General Population <1 in 500 Carrier Screening
F8 Hemophilia A XL General Population 1 in 3,250 Carrier Screening
F8 Haemophilia A AR European (Non-Finnish) Population 1 in 1,298 Carrier Screening
F8 Haemophilia A AR Latino / Admixed American Population 1 in 5,868 Carrier Screening
F8 Haemophilia A AR African / African American Population 1 in 7,658 Carrier Screening
F8 Haemophilia A AR Finnish Population 1 in 10,128 Carrier Screening
F9 Hemophilia B XL General Population 1 in 15,000 Carrier ScreeningNewborn
F9 Haemophilia B AR European (Non-Finnish) Population 1 in 27,770 Carrier ScreeningNewborn
FA2H Spastic paraplegia type 35 AR General Population <1 in 500 Carrier Screening
FAH Tyrosinemia, type 1 AR General Population 1 in 99 Carrier ScreeningNewborn
FAM126A Hypomyelinating leukodystropy type 5 AR General Population <1 in 500 Carrier Screening
FAM161A Retinitis pigmentosa 28 AR General Population 1 in 296 Carrier Screening
FANCA Fanconi anemia group A AR General Population 1 in 239 Carrier Screening
FANCB Fanconi anemia group B XL General Population <1 in 50,000 Carrier Screening
FANCC Fanconi anemia group C AR General Population 1 in 535 Carrier Screening
FANCD2 Fanconi anemia, group D2 AR General Population <1 in 500 Carrier Screening
FANCE Fanconi anemia, group E AR General Population <1 in 500 Carrier Screening
FANCF Fanconi anemia, group F AR General Population <1 in 500 Carrier Screening
FANCG Fanconi anemia group G AR General Population 1 in 632 Carrier Screening
FANCI Fanconi anemia, group I AR General Population <1 in 500 Carrier Screening
FANCL Fanconi anemia, group L AR General Population <1 in 500 Carrier Screening
FANCM FANCM Fanconi-like genomic instability disorder AR General Population <1 in 500 Carrier Screening
FAT4 FAT4-related neurodevelopmental disorder AR General Population <1 in 500 Carrier Screening
FBN1 Marfan syndrome Finnish Population 1 in 1,567 Newborn
FBN1 Marfan syndrome European (Non-Finnish) Population 1 in 32,702 Newborn
FBP1 Fructose-1,6-bisphosphatase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
FBXL4 Mitochondrial DNA depletion syndrome 13 AR General Population <1 in 500 Carrier Screening
FBXO7 Parkinson disease 15 AR General Population <1 in 500 Carrier Screening
FERMT1 Kindler syndrome AR General Population <1 in 500 Carrier Screening
FGD1 X-linked Aarskog-Scott syndrome XL General Population <1 in 50,000 Carrier Screening
FGFR1 No carrier-frequency data published Various - See gene profile → KNOVA NIPT
FGFR2 No carrier-frequency data published Polygenic - See gene profile → KNOVA NIPT
FGFR3 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
FH Fumarase deficiency AR General Population <1 in 500 Carrier ScreeningCancer Screening
FHL1 FHL1-related neuromuscular disorders XL General Population <1 in 50,000 Carrier Screening
FKBP10 Osteogenesis imperfecta type XI AR General Population <1 in 500 Carrier Screening
FKRP FKRP Alpha-dystroglycanopathies AR General Population 1 in 158 Carrier Screening
FKTN FKTN Alpha-dystroglycanopathies AR General Population 1 in 500 Carrier Screening
FLCN No carrier-frequency data published AD - See gene profile → Cancer Screening
FLNB No carrier-frequency data published AD - See gene profile → KNOVA NIPT
FMO3 Trimethylaminuria AR General Population 1 in 139 Carrier Screening
FMR1 Fragile X Syndrome Intermediate Allele XL General Population 1 in 259 Carrier Screening
FMR1 Fragile X Syndrome Premutation XL General Population 1 in 259 Carrier Screening
FMR1 Fragile X Syndrome Full Mutation XL General Population 1 in 11,111 Carrier Screening
FOLR1 Cerebral folate deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
FOXI1 FOXI1-related hearing loss AR General Population <1 in 500 Carrier Screening
FOXN1 T-cell immunodeficiency with thymic aplasia AR General Population <1 in 500 Carrier Screening
FOXN1 AR European (Non-Finnish) Population 1 in 24,161 Carrier Screening
FOXP3 IPEX syndrome XL General Population <1 in 50,000 Carrier ScreeningNewborn
FOXRED1 Mitochondrial complex I deficiency AR General Population <1 in 500 Carrier Screening
FRAS1 Fraser syndrome AR General Population 1 in 250 Carrier Screening
FREM1 No carrier-frequency data published - See gene profile → KNOVA NIPT
FREM2 Fraser syndrome AR General Population 1 in 354 Carrier Screening
FRMD4A Fine-Flusser syndrome AR General Population <1 in 500 Carrier Screening
FRMPD4 X-linked intellectual disability, FRMPD4-related XL General Population <1 in 50,000 Carrier Screening
FRRS1L Developmental and epileptic encephalopathy AR General Population <1 in 500 Carrier Screening
FTCD Glutamate formiminotransferase deficiency AR General Population <1 in 500 Carrier Screening
FTSJ1 X-linked intellectual disability, FTSJ1-related XL General Population <1 in 50,000 Carrier Screening
FUCA1 Fucosidosis AR General Population <1 in 500 Carrier Screening
FXN Friedreich ataxia AR General Population 1 in 80 Carrier Screening
G6PC Glycogen storage disease, type 1a AR General Population 1 in 177 Carrier ScreeningNewborn
G6PC3 Severe congenital neutropenia 4 AR General Population <1 in 500 Carrier Screening
G6PD Glucose-6-phosphate dehydrogenase deficiency XL General Population 1 in 7 Carrier ScreeningNewborn
GAA Pompe disease AR General Population 1 in 100 Carrier ScreeningNewborn
GAA Pompe disease AR European (Non-Finnish) Population 1 in 53 Carrier ScreeningNewborn
GAA Pompe disease AR Ashkenazi Jewish Population 1 in 90 Carrier ScreeningNewborn
GAA Pompe disease AR African / African American Population 1 in 93 Carrier ScreeningNewborn
GAA Pompe disease AR Latino / Admixed American Population 1 in 140 Carrier ScreeningNewborn
GAA Pompe disease AR South Asian Population 1 in 153 Carrier ScreeningNewborn
GAA Pompe disease AR East Asian Population 1 in 208 Carrier ScreeningNewborn
GAA Pompe disease AR Middle Eastern Population 1 in 219 Carrier ScreeningNewborn
GAA Pompe disease AR Finnish Population 1 in 782 Carrier ScreeningNewborn
GALC Krabbe disease AR General Population 1 in 158 Carrier ScreeningNewborn
GALE Galactose epimerase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
GALK1 Galactokinase deficiency AR General Population 1 in 110 Carrier ScreeningNewborn
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A) AR General Population 1 in 224 Carrier ScreeningNewborn
GALNT3 Familial hyperphosphatemic tumoral calcinosis AR General Population <1 in 500 Carrier Screening
GALT Galactosemia AR General Population 1 in 110 Carrier ScreeningNewborn
GAMT Guanidinoacetate methyltransferase deficiency AR General Population 1 in 371 Carrier ScreeningNewborn
GAMT European (Non-Finnish) Population 1 in 377 Carrier ScreeningNewborn
GAMT South Asian Population 1 in 1,862 Carrier ScreeningNewborn
GAMT East Asian Population 1 in 2,248 Carrier ScreeningNewborn
GAMT African / African American Population 1 in 2,305 Carrier ScreeningNewborn
GAMT Latino / Admixed American Population 1 in 5,590 Carrier ScreeningNewborn
GAMT Finnish Population 1 in 13,175 Carrier ScreeningNewborn
GANAB No carrier-frequency data published AR/AD - See gene profile → PKD
GATC Combined oxidative phosphorylation deficiency, GATC-related AR General Population <1 in 500 Carrier Screening
GATM Cerebral creatine deficiency syndrome 3 AR General Population <1 in 500 Carrier ScreeningNewborn
GATM Cerebral creatine deficiency (AGAT) European (Non-Finnish) Population 1 in 61,773 Carrier ScreeningNewborn
GBA Gaucher disease AR General Population 1 in 77 Carrier ScreeningNewborn
GBE1 Glycogen storage disease IV AR General Population 1 in 387 Carrier Screening
GCDH Glutaric aciduria, type I AR General Population 1 in 87 Carrier ScreeningNewborn
GCH1 Hyperphenylalaninemia (BH4-deficient, B) AR General Population <1 in 500 Carrier ScreeningNewborn
GCSH Glycine encephalopathy AR General Population <1 in 500 Carrier Screening
GDAP1 Charcot-Marie-Tooth disease, GDAP1-related AR General Population 1 in 152 Carrier Screening
GDF5 Du Pan Syndrome AR General Population <1 in 500 Carrier Screening
GFM1 Combined oxidative phosphorylation deficiency, GFM1-related AR General Population <1 in 500 Carrier Screening
GFPT1 Congenital myasthenic syndrome 12 AR General Population <1 in 500 Carrier Screening
GH1 Isolated growth hormone deficiency, type 1A AR General Population <1 in 500 Carrier Screening
GHR Growth hormone insensitivity syndrome AR General Population <1 in 500 Carrier Screening
GHRHR Isolated growth hormone deficiency, type 1B AR General Population <1 in 500 Carrier Screening
GJB1 Charcot-Marie-Tooth disease, X-linked type 1 XL General Population 1 in 667 Carrier Screening
GJB2 Nonsyndromic hearing loss 1A AR General Population 1 in 42 Carrier ScreeningNewborn
GJB2 Deafness (GJB2-related, mild/moderate) AR East Asian Population 1 in 10 Carrier ScreeningNewborn
GJB2 Deafness (GJB2-related, mild/moderate) AR Finnish Population 1 in 15 Carrier ScreeningNewborn
GJB6 No carrier-frequency data published AR - See gene profile → Carrier ScreeningNewborn
GJC2 Hypomyelinating leukodystrophy 2 AR General Population <1 in 500 Carrier Screening
GLA Fabry disease XL General Population 1 in 25,000 Carrier ScreeningNewborn
GLB1 GLB1-related disorders AR General Population 1 in 134 Carrier ScreeningNewborn
GLDC Glycine encephalopathy, GLDC-related AR General Population 1 in 193 Carrier Screening
GLE1 Lethal congenital contracture syndrome 1 AR General Population <1 in 500 Carrier Screening
GLI3 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
GLUD1 No carrier-frequency data published AR - See gene profile Newborn
GMPPA Alacrima, achalasia, and impaired intellectual development syndrome AR General Population <1 in 500 Carrier Screening
GNE Inclusion body myopathy type 2 (Nonaka myopathy) AR General Population <1 in 500 Carrier Screening
GNPAT Rhizomelic chondrodysplasia punctata, type 2 AR General Population <1 in 500 Carrier Screening
GNPTAB Mucolipidosis II & III AR General Population <1 in 500 Carrier Screening
GNPTG Mucolipidosis III gamma AR General Population <1 in 500 Carrier Screening
GNRHR Hypogonadotropic hypogonadism, GNRHR-related AR General Population 1 in 347 Carrier Screening
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D) AR General Population 1 in 500 Carrier Screening
GORAB Geroderma osteodysplasticum AR General Population <1 in 500 Carrier Screening
GP1BA Bernard-Soulier syndrome type A1 AR General Population 1 in 500 Carrier Screening
GP1BA Bernard-Soulier syndrome AR Finnish Population 1 in 513 Carrier Screening
GP1BA Bernard-Soulier syndrome AR East Asian Population 1 in 4,963 Carrier Screening
GP1BA Bernard-Soulier syndrome AR African / African American Population 1 in 5,170 Carrier Screening
GP1BA Bernard-Soulier syndrome AR Latino / Admixed American Population 1 in 5,591 Carrier Screening
GP1BA Bernard-Soulier syndrome AR European (Non-Finnish) Population 1 in 9,422 Carrier Screening
GP9 Bernard-Soulier syndrome type C AR General Population 1 in 500 Carrier Screening
GP9 Bernard-Soulier syndrome AR Finnish Population 1 in 320 Carrier Screening
GP9 Bernard-Soulier syndrome AR European (Non-Finnish) Population 1 in 589 Carrier Screening
GP9 Bernard-Soulier syndrome AR South Asian Population 1 in 730 Carrier Screening
GP9 Bernard-Soulier syndrome AR African / African American Population 1 in 1,295 Carrier Screening
GP9 Bernard-Soulier syndrome AR East Asian Population 1 in 3,308 Carrier Screening
GP9 Bernard-Soulier syndrome AR Latino / Admixed American Population 1 in 5,589 Carrier Screening
GPHN Molybdenum cofactor deficiency C AR General Population <1 in 500 Carrier Screening
GPR143 X-linked Ocular albinism, GPR143-related XL General Population 1 in 25,000 Carrier ScreeningNewborn
GREM1 No carrier-frequency data published AD - See gene profile → Cancer Screening
GRHPR Primary hyperoxaluria type II AR General Population <1 in 500 Carrier ScreeningNewborn
GRIP1 Fraser syndrome AR General Population 1 in 84 Carrier Screening
GSS Glutathione synthetase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
GUCY2D Leber congenital amaurosis 1 AR General Population <1 in 500 Carrier Screening
GUCY2D Leber congenital amaurosis (GUCY2D) AR Finnish Population 1 in 121 Carrier Screening
GUCY2D Leber congenital amaurosis (GUCY2D) AR European (Non-Finnish) Population 1 in 604 Carrier Screening
GUCY2D Leber congenital amaurosis (GUCY2D) AR African / African American Population 1 in 2,960 Carrier Screening
GUCY2D Leber congenital amaurosis (GUCY2D) AR Latino / Admixed American Population 1 in 3,176 Carrier Screening
GUCY2D Leber congenital amaurosis (GUCY2D) AR South Asian Population 1 in 7,171 Carrier Screening
GUCY2D Leber congenital amaurosis (GUCY2D) AR East Asian Population 1 in 9,924 Carrier Screening
GUSB Mucopolysaccharidosis type VII AR General Population 1 in 250 Carrier ScreeningNewborn
GYS2 Glycogen storage disease, type 0, liver AR General Population <1 in 500 Carrier ScreeningNewborn
HADH Familial hyperinsulinemic hypoglycemia 4 AR General Population <1 in 500 Carrier ScreeningNewborn
HADHA HADHA-related long-chain hydroxyacyl-CoA dehydrogenase and trifunctional protein deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
HADHB HADHB-related trifunctional protein deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
HAMP Hemochromatosis, type 2B AR General Population <1 in 500 Carrier Screening
HAX1 Severe congenital neutropenia, HAX1-related AR General Population 1 in 224 Carrier ScreeningNewborn
HBA1 No carrier-frequency data published AR - See gene profile Carrier Screening
HBA2 No carrier-frequency data published AR - See gene profile → Carrier Screening
HBB Hemoglobin E thalassemia AR General Population 1 in 158 Carrier ScreeningNewborn
HBB Sickle cell disease AR General Population 1 in 158 Carrier ScreeningNewborn
HBB Beta thalassemia AR General Population 1 in 158 Carrier ScreeningNewborn
HBB Hemoglobin C disease AR General Population 1 in 158 Carrier ScreeningNewborn
HBD No carrier-frequency data published - See gene profile Carrier Screening
HCFC1 Methylmalonic acidemia with homocystinuria, type cblX XL General Population <1 in 50,000 Carrier Screening
HDAC8 No carrier-frequency data published AR - See gene profile → KNOVA NIPT
HELLS Immunodeficiency, Centromeric region instability, Facial anomalies syndrome AR General Population <1 in 500 Carrier Screening
HEXA Tay-Sachs disease AR General Population 1 in 300 Carrier Screening
HEXB Sandhoff disease AR General Population 1 in 600 Carrier Screening
HFE Hereditary Hemochromatosis AR General Population 1 in 10 Carrier Screening
HGD Alkaptonuria AR General Population 1 in 250 Carrier Screening
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C) AR General Population 1 in 434 Carrier Screening
HIKESHI Hypomyelinating leukodystrophy 13 AR General Population <1 in 500 Carrier Screening
HINT1 Neuromyotonia and axonal neuropathy AR General Population <1 in 500 Carrier Screening
HJV Hemochromatosis, type 2A AR General Population 1 in 500 Carrier Screening
HLCS Holocarboxylase synthetase deficiency AR General Population 1 in 500 Carrier ScreeningNewborn
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
HMOX1 Heme oxygenase-1 deficiency AR General Population <1 in 500 Carrier Screening
HNF4A MODY1 (HNF4A diabetes) European (Non-Finnish) Population 1 in 2,224 Newborn
HNF4A MODY1 (HNF4A diabetes) Latino / Admixed American Population 1 in 2,235 Newborn
HNF4A MODY1 (HNF4A diabetes) South Asian Population 1 in 14,370 Newborn
HNRNPH2 X-linked intellectual disability, HNRNPH2-related XL General Population <1 in 50,000 Carrier Screening
HNRNPK No carrier-frequency data published - See gene profile → KNOVA NIPT
HOGA1 Primary hyperoxaluria type III AR General Population 1 in 184 Carrier ScreeningNewborn
HOXB13 No carrier-frequency data published AD - See gene profile → Cancer Screening
HPD Tyrosinemia type III AR General Population <1 in 500 Carrier ScreeningNewborn
HPRT1 HPRT1-related disorders: Lesch- Nyhan syndrome and Kelley- Seegmiller syndrome XL General Population <1 in 50,000 Carrier Screening
HPS1 Hermansky-Pudlak syndrome 1 AR General Population 1 in 354 Carrier ScreeningNewborn
HPS3 Hermansky-Pudlak syndrome 3 AR General Population 1 in 354 Carrier Screening
HPS4 Hermansky-Pudlak syndrome 4 AR General Population <1 in 500 Carrier ScreeningNewborn
HPS5 Hermansky-Pudlak syndrome 5 AR General Population <1 in 500 Carrier Screening
HPS6 Hermansky-Pudlak syndrome 6 AR General Population <1 in 500 Carrier Screening
HRAS No carrier-frequency data published AD - See gene profile → KNOVA NIPT
HSD17B10 HSD10 mitochondrial disease XL General Population <1 in 50,000 Carrier Screening
HSD17B3 17-Beta-Hydroxysteroid Dehydrogenase Deficiency AR General Population 1 in 192 Carrier Screening
HSD17B4 D-bifunctional protein deficiency AR General Population 1 in 158 Carrier Screening
HSD3B2 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
HSD3B7 Congenital bile acid synthesis defect 1 AR General Population <1 in 500 Carrier ScreeningNewborn
HSPD1 Hypomyelinating leukodystrophy 4 AR General Population <1 in 500 Carrier Screening
HYAL1 Mucopolysaccharidosis type IX AR General Population <1 in 500 Carrier Screening
HYLS1 Hydrolethalus syndrome AR General Population <1 in 500 Carrier Screening
IDH3B Retinitis pigmentosa, IDH3B- related AR General Population 1 in 296 Carrier Screening
IDS Mucopolysaccharidosis type II (Hunter syndrome) XL General Population 1 in 50,000 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis, type I (Hurler syndrome) AR General Population <1 in 500 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis type I (Hurler) AR Finnish Population 1 in 182 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis type I (Hurler) AR Latino / Admixed American Population 1 in 542 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis type I (Hurler) AR East Asian Population 1 in 661 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis type I (Hurler) AR African / African American Population 1 in 826 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis type I (Hurler) AR South Asian Population 1 in 1,465 Carrier ScreeningNewborn
IDUA Mucopolysaccharidosis type I (Hurler) AR Ashkenazi Jewish Population 1 in 2,095 Carrier ScreeningNewborn
IFNAR1 Immunodeficiency 106 AR General Population <1 in 500 Carrier Screening
IFT140 IFT140-related disorders AR General Population <1 in 500 Carrier ScreeningPKD
IFT172 IFT172-related ciliopathies AR General Population <1 in 500 Carrier Screening
IFT27 IFT27-related ciliopathies AR General Population <1 in 500 Carrier Screening
IGHMBP2 IGHMBP2-related neuropathies AR General Population <1 in 500 Carrier Screening
IGSF1 X-linked central hypothyroidism and testicular enlargement XL General Population <1 in 50,000 Carrier ScreeningNewborn
IKBKB Immunodeficiency 15B AR General Population <1 in 500 Carrier Screening
IL10RA Inflammatory bowel disease 28 AR General Population <1 in 500 Carrier Screening
IL1RAPL1 X-linked intellectual disability, IL1RAPL1-related XL General Population <1 in 50,000 Carrier Screening
IL2RA Immunodeficiency due to CD25 deficiency AR General Population <1 in 500 Carrier Screening
IL2RG X-linked severe combined immunodeficiency XL General Population 1 in 25,000 Carrier ScreeningNewborn
IL7R Severe Combined Immunodeficiency 104 AR General Population <1 in 500 Carrier ScreeningNewborn
IL7R Multiple sclerosis AR Latino / Admixed American Population 1 in 1,719 Carrier ScreeningNewborn
IL7R Multiple sclerosis AR European (Non-Finnish) Population 1 in 3,020 Carrier ScreeningNewborn
IL7R Multiple sclerosis AR East Asian Population 1 in 9,925 Carrier ScreeningNewborn
IL7R Multiple sclerosis AR South Asian Population 1 in 21,562 Carrier ScreeningNewborn
INPP5E Joubert syndrome 1 AR General Population 1 in 159 Carrier Screening
INS No carrier-frequency data published Various - See gene profile Newborn
INSR INSR-related conditions AR General Population <1 in 500 Carrier Screening
INVS Nephronophthisis 2 AR General Population <1 in 500 Carrier Screening
IQCB1 Senior-Loken Syndrome 5, IQCB1-Related AR General Population <1 in 500 Carrier Screening
ISPD Muscular Dystrophy- Dystroglycanopathy, ISPD-Related AR General Population 1 in 371 Carrier Screening
ITGA2B Glanzmann thrombasthenia AR General Population <1 in 500 Carrier Screening
ITGA2B Glanzmann thrombasthenia AR East Asian Population 1 in 579 Carrier Screening
ITGA2B Glanzmann thrombasthenia AR South Asian Population 1 in 1,101 Carrier Screening
ITGA2B Glanzmann thrombasthenia AR European (Non-Finnish) Population 1 in 1,747 Carrier Screening
ITGA2B Glanzmann thrombasthenia AR African / African American Population 1 in 1,805 Carrier Screening
ITGA2B Glanzmann thrombasthenia AR Latino / Admixed American Population 1 in 3,190 Carrier Screening
ITGA6 Junctional epidermolysis bullosa AR General Population <1 in 500 Carrier Screening
ITGB3 Glanzmann thrombasthenia AR General Population <1 in 500 Carrier Screening
ITGB3 Glanzmann thrombasthenia AR East Asian Population 1 in 709 Carrier Screening
ITGB3 Glanzmann thrombasthenia AR African / African American Population 1 in 799 Carrier Screening
ITGB3 Glanzmann thrombasthenia AR Latino / Admixed American Population 1 in 894 Carrier Screening
ITGB3 Glanzmann thrombasthenia AR European (Non-Finnish) Population 1 in 1,637 Carrier Screening
ITGB3 Glanzmann thrombasthenia AR South Asian Population 1 in 1,875 Carrier Screening
ITGB4 Junctional epidermolysis bullosa AR General Population <1 in 500 Carrier Screening
ITPA Developmental and epileptic encephalopathy 35 AR General Population <1 in 500 Carrier Screening
ITPR1 ITPR1-related conditions AR General Population <1 in 500 Carrier Screening
IVD Isovaleric Acidemia AR General Population 1 in 167 Carrier ScreeningNewborn
IYD Thyroid dyshormonogenesis, IYD-related AR General Population <1 in 500 Carrier ScreeningNewborn
JAG1 No carrier-frequency data published AD - See gene profile Newborn
JAK3 Severe combined immunodeficiency, JAK3-related AR General Population 1 in 299 Carrier ScreeningNewborn
JAK3 AR Middle Eastern Population 1 in 1,145 Carrier ScreeningNewborn
JAK3 AR European (Non-Finnish) Population 1 in 9,572 Carrier ScreeningNewborn
JAK3 AR South Asian Population 1 in 10,522 Carrier ScreeningNewborn
KAT6B No carrier-frequency data published AD - See gene profile → KNOVA NIPT
KCNE1 No carrier-frequency data published AD - See gene profile Newborn
KCNJ1 Bartter syndrome type 2 AR General Population <1 in 500 Carrier Screening
KCNJ10 SeSAME syndrome AR General Population <1 in 500 Carrier Screening
KCNJ11 KCNJ11-related hyperinsulinism AR General Population 1 in 423 Carrier ScreeningNewborn
KCNQ2 No carrier-frequency data published Various - See gene profile Newborn
KCTD7 Progressive myoclonic epilepsy type 3 AR General Population <1 in 500 Carrier Screening
KDM5C X-linked intellectual disability, KDM5C-related XL General Population <1 in 50,000 Carrier Screening
KIAA0586 KIAA0586-related conditions AR General Population <1 in 500 Carrier Screening
KIF14 Primary Autosomal Recessive Microcephaly 20 AR General Population <1 in 500 Carrier Screening
KMT2D No carrier-frequency data published AD - See gene profile → KNOVA NIPT
KPTN KPTN-related intellectual disability AR General Population <1 in 500 Carrier Screening
KRAS Linear sebaceous naevus syndrome European (Non-Finnish) Population 1 in 277,817 KNOVA NIPT
KRT14 Epidermolysis bullosa simplex 1D AR General Population <1 in 500 Carrier Screening
KY Myofibrillar myopathy 7 AR General Population <1 in 500 Carrier Screening
L1CAM L1 syndrome XL General Population 1 in 15,000 Carrier Screening
LAMA2 Muscular dystrophy, LAMA2-related AR General Population <1 in 500 Carrier Screening
LAMA3 Junctional epidermolysis bullosa 2 AR General Population 1 in 781 Carrier Screening
LAMB3 Junctional epidermolysis bullosa, LAMB3-related AR General Population 1 in 781 Carrier Screening
LAMC2 Junctional epidermolysis bullosa, LAMC2-related AR General Population 1 in 781 Carrier Screening
LAMP2 Danon disease XL General Population 1 in 16,700 Carrier ScreeningNewborn
LARGE1 Muscular dystrophy- dystroglycanopathy (LARGE1-related) AR General Population <1 in 500 Carrier Screening
LARP7 Alazami syndrome AR General Population < 1 in 500 Carrier Screening
LARS Infantile liver failure syndrome 1 AR General Population <1 in 500
LCA5 Leber congenital amaurosis 5 AR General Population 1 in 500 Carrier Screening
LCK Immunodeficiency 22 AR General Population <1 in 500 Carrier Screening
LDLR Familial hypercholesterolemia AR General Population 1 in 500 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia South Asian Population 1 in 339 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia East Asian Population 1 in 376 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia European (Non-Finnish) Population 1 in 459 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia Latino / Admixed American Population 1 in 699 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia Ashkenazi Jewish Population 1 in 708 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia African / African American Population 1 in 829 Carrier ScreeningNewborn
LDLR Familial hypercholesterolaemia Finnish Population 1 in 1,046 Carrier ScreeningNewborn
LDLRAP1 Familial Hypercholesterolemia AR General Population <1 in 500 Carrier Screening
LHCGR Leydig cell hypoplasia AR General Population <1 in 500 Carrier Screening
LHX3 Combined pituitary hormone deficiency 3 AR General Population 1 in 45 Carrier ScreeningNewborn
LIFR Stuve-Wiedemann syndrome AR General Population <1 in 500 Carrier Screening
LIG4 LIG4 syndrome AR General Population <1 in 500 Carrier Screening
LIPA Lysosomal acid lipase deficiency AR General Population 1 in 211 Carrier ScreeningNewborn
LIPH Hypotrichosis 7 AR General Population <1 in 500 Carrier Screening
LIPN Congenital Ichthyosis 8 AR General Population <1 in 500 Carrier Screening
LMAN1 Combined factor V and VIII deficiency AR General Population <1 in 500 Carrier Screening
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type AR General Population <1 in 500 Carrier ScreeningNewborn
LMNA No carrier-frequency data published AD - See gene profile → KNOVA NIPT
LONP1 CODAS syndrome AR General Population <1 in 500 Carrier Screening
LOXHD1 Nonsyndromic hearing loss 77 AR General Population 1 in 500 Carrier Screening
LPAR6 Hypotrichosis 8 AR General Population <1 in 500 Carrier Screening
LPL Familial lipoprotein lipase deficiency AR General Population 1 in 500 Carrier ScreeningNewborn
LRAT Leber congenital amaurosis 14 AR General Population <1 in 500 Carrier Screening
LRBA Combined immunodeficiency, LRBA-related AR General Population <1 in 500 Carrier Screening
LRP2 Donnai–Barrow syndrome AR General Population 1 in 214 Carrier Screening
LRPPRC Leigh syndrome with Complex IV deficiency AR General Population 1 in 447 Carrier Screening
LTBP3 Dental anomalies and short stature AR General Population <1 in 500 Carrier Screening
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities AR General Population <1 in 500 Carrier Screening
LYST Chediak-Higashi syndrome AR General Population <1 in 500 Carrier Screening
MADD DEEAH syndrome AR General Population <1 in 500 Carrier Screening
MAK Retinitis Pigmentosa 62 AR General Population <1 in 500 Carrier Screening
MALT1 Immunodeficiency 12 AR General Population <1 in 500 Carrier Screening
MAN1B1 Rafiq syndrome AR General Population <1 in 500 Carrier Screening
MAN2B1 Alpha-Mannosidosis AR General Population 1 in 354 Carrier Screening
MANBA Beta-Mannosidosis AR General Population <1 in 500 Carrier Screening
MAP2K1 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
MAP2K2 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
MAT1A Methionine adenosyltransferase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
MAX No carrier-frequency data published AD - See gene profile → Cancer Screening
MBD4 No carrier-frequency data published AR - See gene profile → Cancer Screening
MBTPS2 MBTPS2-related disorders (X-linked) XL General Population <1 in 50,000 Carrier Screening
MC2R No carrier-frequency data published Various - See gene profile Newborn
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-MCC deficiency) AR General Population 1 in 95 Carrier ScreeningNewborn
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency (3-MCC deficiency) AR General Population 1 in 95 Carrier ScreeningNewborn
MCEE Methylmalonyl-CoA epimerase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
MCOLN1 Mucolipidosis IV AR General Population 1 in 300 Carrier Screening
MCPH1 Primary microcephaly 1, recessive AR General Population 1 in 147 Carrier Screening
MECP2 MECP2-related conditions XL General Population <1 in 50,000 Carrier ScreeningKNOVA NIPT
MECP2 Rett syndrome XL European (Non-Finnish) Population 1 in 42,101 Carrier ScreeningKNOVA NIPT
MECR MECR-related disorders AR General Population <1 in 500 Carrier Screening
MED17 Postnatal Progressive Microcephaly with Seizures and Brain Atrophy AR General Population <1 in 500 Carrier Screening
MED25 Basel-Vanagaite-Smirin-Yosef syndrome AR General Population <1 in 500 Carrier Screening
MEFV Familial Mediterranean fever AR General Population 1 in 20 Carrier ScreeningNewborn
MEGF8 Carpenter syndrome 2 AR General Population <1 in 500 Carrier Screening
MEN1 No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewborn
MESP2 Spondylocostal dysostosis AR General Population <1 in 500 Carrier Screening
MET No carrier-frequency data published AD - See gene profile → Cancer Screening
MFSD8 Neuronal ceroid lipofuscinosis, MFSD8-related AR General Population <1 in 500 Carrier Screening
MGP Keutel syndrome AR General Population <1 in 500 Carrier Screening
MID1 Opitz GBBB syndrome, type I XL General Population <1 in 50,000 Carrier Screening
MKKS Bardet-Biedl syndrome 6 AR General Population <1 in 500 Carrier Screening
MKS1 MKS1-related ciliopathies AR General Population 1 in 260 Carrier Screening
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts AR General Population <1 in 500 Carrier Screening
MLH1 Constitutional mismatch repair deficiency African / African American Population 1 in 3,590 Cancer Screening
MLH1 Constitutional mismatch repair deficiency South Asian Population 1 in 3,698 Cancer Screening
MLH1 Constitutional mismatch repair deficiency European (Non-Finnish) Population 1 in 4,569 Cancer Screening
MLH1 Constitutional mismatch repair deficiency Latino / Admixed American Population 1 in 5,591 Cancer Screening
MLH1 Constitutional mismatch repair deficiency Finnish Population 1 in 6,675 Cancer Screening
MLH3 No carrier-frequency data published AD - See gene profile → Cancer Screening
MLYCD Malonyl-CoA decarboxylase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
MMAA Methylmalonic aciduria, cblA type AR General Population 1 in 301 Carrier ScreeningNewborn
MMAB Methylmalonic aciduria, cblB type AR General Population 1 in 435 Carrier ScreeningNewborn
MMACHC Methylmalonic aciduria and homocystinuria, cblC type AR General Population 1 in 134 Carrier ScreeningNewborn
MMADHC Methylmalonic aciduria and homocystinuria, cblD type AR General Population <1 in 500 Carrier ScreeningNewborn
MOCS1 Molybdenum cofactor deficiency A AR General Population <1 in 500 Carrier Screening
MOCS2 Molybdenum cofactor deficiency B AR General Population <1 in 500 Carrier Screening
MPDU1 Congenital disorder of glycosylation type If AR General Population <1 in 500 Carrier Screening
MPI Congenital disorder of glycosylation type Ib AR General Population <1 in 500 Carrier ScreeningNewborn
MPL Congenital amegakaryocytic thrombocytopenia AR General Population 1 in 102 Carrier ScreeningNewborn
MPV17 MPV17-Related Disorders AR General Population <1 in 500 Carrier Screening
MRE11 Ataxia-Telangiectasia-Like Disorder 1 AR General Population <1 in 500 Carrier Screening
MSH2 Constitutional mismatch repair deficiency European (Non-Finnish) Population 1 in 131 Cancer Screening
MSH2 Constitutional mismatch repair deficiency African / African American Population 1 in 794 Cancer Screening
MSH2 Constitutional mismatch repair deficiency Ashkenazi Jewish Population 1 in 832 Cancer Screening
MSH2 Constitutional mismatch repair deficiency East Asian Population 1 in 1,128 Cancer Screening
MSH2 Constitutional mismatch repair deficiency Latino / Admixed American Population 1 in 1,230 Cancer Screening
MSH2 Constitutional mismatch repair deficiency Finnish Population 1 in 2,392 Cancer Screening
MSH2 Constitutional mismatch repair deficiency South Asian Population 1 in 6,060 Cancer Screening
MSH3 No carrier-frequency data published AR - See gene profile → Cancer Screening
MSH6 Constitutional mismatch repair deficiency Ashkenazi Jewish Population 1 in 933 Cancer Screening
MSH6 Constitutional mismatch repair deficiency Finnish Population 1 in 1,392 Cancer Screening
MSH6 Constitutional mismatch repair deficiency European (Non-Finnish) Population 1 in 1,649 Cancer Screening
MSH6 Constitutional mismatch repair deficiency East Asian Population 1 in 1,803 Cancer Screening
MSH6 Constitutional mismatch repair deficiency South Asian Population 1 in 4,312 Cancer Screening
MSH6 Constitutional mismatch repair deficiency African / African American Population 1 in 5,138 Cancer Screening
MSH6 Constitutional mismatch repair deficiency Latino / Admixed American Population 1 in 5,590 Cancer Screening
MSN X-linked combined immunodeficiency XL General Population <1 in 50,000 Carrier Screening
MTHFD1 Combined immunodeficiency and megaloblastic anemia AR General Population <1 in 500 Carrier Screening
MTHFR Homocystinuria, MTHFR-related AR General Population 1 in 224 Carrier Screening
MTM1 Myotubular myopathy, X-linked XL General Population 1 in 25,000 Carrier Screening
MTMR2 Charcot-Marie-Tooth disease, type 4B1 AR General Population <1 in 500 Carrier Screening
MTR Methylcobalamin deficiency, type cblG AR General Population <1 in 500 Carrier ScreeningNewborn
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type AR General Population <1 in 500 Carrier ScreeningNewborn
MTTP Abetalipoproteinemia AR General Population <1 in 500 Carrier ScreeningNewborn
MUSK MUSK-related conditions AR General Population 1 in 447 Carrier Screening
MUT Methylmalonic aciduria– methylmalonyl–CoA mutase deficiency AR General Population 1 in 100 Carrier ScreeningNewborn
MUTYH No carrier-frequency data published AR - See gene profile → Cancer Screening
MVK Mevalonate kinase deficiency AR General Population <1 in 500 Carrier Screening
MYBPC1 Lethal congenital contractural syndrome 4 AR General Population <1 in 500 Carrier Screening
MYO15A Nonsyndromic hearing loss, MYO15A-related AR General Population 1 in 500 Carrier ScreeningNewborn
MYO15A AR European (Non-Finnish) Population 1 in 1,621 Carrier ScreeningNewborn
MYO15A AR Latino / Admixed American Population 1 in 2,484 Carrier ScreeningNewborn
MYO15A AR African / African American Population 1 in 5,171 Carrier ScreeningNewborn
MYO18B Klippel-Feil anomaly-myopathy- facial dysmorphism syndrome AR General Population <1 in 500 Carrier Screening
MYO7A MYO7A-related disorders AR General Population 1 in 206 Carrier Screening
MYO7A Usher syndrome type 1 AR European (Non-Finnish) Population 1 in 950 Carrier Screening
MYO7A Usher syndrome type 1 AR South Asian Population 1 in 2,291 Carrier Screening
MYO7A Usher syndrome type 1 AR African / African American Population 1 in 5,180 Carrier Screening
MYO7A Usher syndrome type 1 AR Finnish Population 1 in 6,662 Carrier Screening
MYO7A Usher syndrome type 1 AR Latino / Admixed American Population 1 in 9,618 Carrier Screening
NAGA Schindler disease types 1 and 3 AR General Population 1 in 94 Carrier Screening
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) AR General Population <1 in 500 Carrier Screening
NAGS N-acetylglutamate synthase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
NARS2 Combined oxidative phosphorylation deficiency, NARS2-related AR General Population <1 in 500 Carrier Screening
NBAS SOPH syndrome AR General Population <1 in 500 Carrier Screening
NBEAL2 Gray platelet syndrome AR General Population <1 in 500 Carrier Screening
NBN Nijmegen breakage syndrome AR General Population 1 in 158 Carrier Screening
NCF1 No carrier-frequency data published AR - See gene profile → Carrier Screening
NCF2 Chronic granulomatous disease 2 AR General Population <1 in 500 Carrier ScreeningNewborn
NCF4 Chronic granulomatous disease 4 AR General Population <1 in 500 Carrier Screening
NDE1 Microcephaly with lissencephaly and/or hydranencephaly AR General Population <1 in 500 Carrier Screening
NDP Norrie disease XL General Population <1 in 50,000 Carrier Screening
NDRG1 Charcot-Marie-Tooth disease, type 4D AR General Population 1 in 22 Carrier Screening
NDUFA11 Mitochondrial complex I deficiency AR General Population <1 in 500 Carrier Screening
NDUFAF2 Mitochondrial complex I deficiency AR General Population <1 in 500 Carrier Screening
NDUFAF5 Mitochondrial complex I deficiency (Leigh syndrome) AR General Population 1 in 447 Carrier Screening
NDUFAF6 NDUFAF6-Related Disorders AR General Population <1 in 500 Carrier Screening
NDUFB11 NDUFB11-related disorders (X-linked) XL General Population <1 in 50,000 Carrier Screening
NDUFS2 Mitochondrial complex I deficiency AR General Population <1 in 500 Carrier Screening
NDUFS4 Mitochondrial complex I deficiency AR General Population <1 in 500 Carrier Screening
NDUFS6 Mitochondrial complex I deficiency (Leigh syndrome) AR General Population <1 in 500 Carrier Screening
NDUFS7 Mitochondrial complex I deficiency AR General Population <1 in 500 Carrier Screening
NDUFV1 Mitochondrial complex I deficiency, nuclear type 4 AR General Population <1 in 500 Carrier Screening
NEB Nemaline myopathy AR General Population 1 in 112 Carrier Screening
NEB Nemaline myopathy AR Latino / Admixed American Population 1 in 3,191 Carrier Screening
NEB Nemaline myopathy AR European (Non-Finnish) Population 1 in 4,746 Carrier Screening
NEB Nemaline myopathy AR East Asian Population 1 in 9,902 Carrier Screening
NEB Nemaline myopathy AR African / African American Population 1 in 10,359 Carrier Screening
NEK8 Renal-hepatic-pancreatic dysplasia 2 AR General Population <1 in 500 Carrier Screening
NEU1 Sialidosis, type I and II AR General Population <1 in 500 Carrier Screening
NF1 No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewborn
NF2 No carrier-frequency data published AD - See gene profile → Newborn
NGLY1 Congenital disorder of deglycosylation AR General Population <1 in 500 Carrier Screening
NHEJ1 Severe combined immunodeficiency, NHEJ1-related AR General Population <1 in 500 Carrier Screening
NIPAL4 Autosomal Recessive Congenital Ichthyosis 6 AR General Population <1 in 500 Carrier Screening
NIPBL No carrier-frequency data published AD - See gene profile → KNOVA NIPT
NONO X-linked intellectual disability syndrome 34 XL General Population <1 in 50,000 Carrier Screening
NPC1 Niemann-Pick disease, type C1 AR General Population 1 in 194 Carrier ScreeningNewborn
NPC2 Niemann-Pick disease, type C2 AR General Population 1 in 194 Carrier Screening
NPHP1 NPHP1-related ciliopathies AR General Population 1 in 480 Carrier Screening
NPHP3 NPHP3-related ciliopathies AR General Population <1 in 500 Carrier Screening
NPHP4 NPHP4-Related Disorders AR General Population <1 in 500 Carrier Screening
NPHS1 Congenital nephrotic syndrome, type 1 AR General Population 1 in 289 Carrier Screening
NPHS2 Congenital nephrotic syndrome, type 2 AR General Population 1 in 289 Carrier Screening
NR0B1 Congenital adrenal hypoplasia, X-linked XL General Population 1 in 6,250 Carrier ScreeningNewborn
NR2E3 NR2E3-related retinal dystrophies AR General Population 1 in 209 Carrier Screening
NRAS Congenital melanocytic naevus (giant) European (Non-Finnish) Population 1 in 185,305 KNOVA NIPT
NSD1 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
NSDHL No carrier-frequency data published XLD - See gene profile → KNOVA NIPT
NSMCE3 Lung disease, immunodeficiency, and chromosome breakage syndrome AR General Population <1 in 500 Carrier Screening
NTHL1 No carrier-frequency data published AR - See gene profile → Cancer Screening
NTRK1 Congenital insensitivity to pain with anhidrosis AR General Population <1 in 500 Carrier ScreeningNewborn
NUP188 Sandestig-Stefanova syndrome AR General Population <1 in 500 Carrier Screening
NUP62 Infantile striatonigral degeneration AR General Population <1 in 500 Carrier Screening
OAT Gyrate atrophy of choroid and retina AR General Population <1 in 500 Carrier ScreeningNewborn
OBSL1 3M syndrome 2 AR General Population <1 in 500 Carrier Screening
OCA2 Oculocutaneous albinism type II AR General Population 1 in 76 Carrier Screening
OCRL OCRL-related disorders XL General Population 1 in 250,000 Carrier Screening
OPA1 No carrier-frequency data published Various - See gene profile Newborn
OPA3 Costeff syndrome AR General Population <1 in 500 Carrier Screening
OPHN1 X-linked intellectual disability- cerebellar hypoplasia syndrome XL General Population <1 in 50,000 Carrier Screening
ORC4 Meier-Gorlin syndrome 2 AR General Population <1 in 500 Carrier Screening
OSTM1 Osteopetrosis 5 AR General Population <1 in 500 Carrier Screening
OTC Ornithine transcarbamylase deficiency XL General Population 1 in 7,000 Carrier ScreeningNewborn
OTOA Nonsyndromic hearing loss, OTOA-related AR General Population <1 in 500 Carrier Screening
OTOF Nonsyndromic hearing loss, OTOF-related AR General Population <1 in 500 Carrier ScreeningNewborn
OTOF Auditory neuropathy (OTOF) AR East Asian Population 1 in 163 Carrier ScreeningNewborn
OTOF Auditory neuropathy (OTOF) AR Latino / Admixed American Population 1 in 719 Carrier ScreeningNewborn
OTOF Auditory neuropathy (OTOF) AR African / African American Population 1 in 3,455 Carrier ScreeningNewborn
OTOF Auditory neuropathy (OTOF) AR South Asian Population 1 in 21,544 Carrier ScreeningNewborn
OTUD6B Syndromic intellectual disability, OTUD6B-related AR General Population <1 in 500 Carrier Screening
P3H1 Osteogenesis imperfecta, type VIII AR General Population <1 in 500 Carrier Screening
PAH Phenylalanine Hydroxylase deficiency (Phenylketonuria) AR General Population 1 in 93 Carrier ScreeningNewborn
PAH Phenylketonuria AR Ashkenazi Jewish Population 1 in 18 Carrier ScreeningNewborn
PAH Phenylketonuria AR South Asian Population 1 in 79 Carrier ScreeningNewborn
PAH Phenylketonuria AR Latino / Admixed American Population 1 in 104 Carrier ScreeningNewborn
PAH Phenylketonuria AR Finnish Population 1 in 176 Carrier ScreeningNewborn
PAH Phenylketonuria AR African / African American Population 1 in 194 Carrier ScreeningNewborn
PAK3 X-linked intellectual disability, PAK3-related XL General Population <1 in 50,000 Carrier Screening
PALB2 BRCA1/PALB2-associated breast cancer Finnish Population 1 in 287 Cancer Screening
PALB2 BRCA1/PALB2-associated breast cancer European (Non-Finnish) Population 1 in 1,571 Cancer Screening
PANK2 Pantothenate kinase-associated neurodegeneration AR General Population 1 in 289 Carrier Screening
PAX3 No carrier-frequency data published Various - See gene profile Newborn
PAX7 Congenital myopathy 19 AR General Population <1 in 500 Carrier Screening
PAX8 No carrier-frequency data published Various - See gene profile Newborn
PC Pyruvate carboxylase deficiency AR General Population 1 in 250 Carrier Screening
PCBD1 Tetrahydrobiopterin deficiency, PCBD1-related AR General Population <1 in 500 Carrier ScreeningNewborn
PCCA Propionic acidemia, PCCA-related AR General Population 1 in 224 Carrier ScreeningNewborn
PCCB Propionic acidemia, PCCB-related AR General Population 1 in 224 Carrier ScreeningNewborn
PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1 AR General Population <1 in 500 Carrier Screening
PCDH15 PCDH15-related disorders AR General Population 1 in 395 Carrier Screening
PCNT Microcephalic osteodysplastic primordial dwarfism, type II AR General Population <1 in 500 Carrier Screening
PDE6A Retinitis pigmentosa, PDE6A-related AR General Population 1 in 133 Carrier Screening
PDE6G Retinitis pigmentosa 57 AR General Population <1 in 500 Carrier Screening
PDHA1 No carrier-frequency data published AR - See gene profile Carrier Screening
PDHB Pyruvate dehydrogenase E1-beta deficiency AR General Population <1 in 500 Carrier Screening
PDHX Pyruvate dehydrogenase E3-binding protein deficiency AR General Population <1 in 500 Carrier Screening
PDP1 Pyruvate dehydrogenase phosphatase deficiency AR General Population <1 in 500 Carrier Screening
PDX1 PDX1-related diabetes AR General Population <1 in 500 Carrier Screening
PEPD Prolidase deficiency AR General Population <1 in 500 Carrier Screening
PET100 Mitochondrial complex IV deficiency AR General Population <1 in 500 Carrier Screening
PEX1 Zellweger syndrome, PEX1-related AR General Population 1 in 147 Carrier Screening
PEX10 Zellweger syndrome, PEX10-related AR General Population 1 in 500 Carrier Screening
PEX11B Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX12 Zellweger syndrome, PEX12-related AR General Population 1 in 373 Carrier Screening
PEX13 Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX14 Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX16 Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX19 Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX2 Zellweger syndrome, PEX2-related AR General Population 1 in 500 Carrier Screening
PEX26 Zellweger syndrome AR General Population <1 in 500 Carrier Screening
PEX3 Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX5 Zellweger spectrum disorder AR General Population <1 in 500 Carrier Screening
PEX6 Zellweger syndrome, PEX6-related AR General Population 1 in 280 Carrier Screening
PEX7 Rhizomelic chondrodysplasia punctata, type 1 AR General Population 1 in 158 Carrier Screening
PFKM Glycogen storage disease VII AR General Population <1 in 500 Carrier Screening
PGAP3 Hyperphosphatasia with impaired intellectual development syndrome 4 AR General Population <1 in 500 Carrier Screening
PGK1 Phosphoglycerate kinase 1 deficiency XL General Population <1 in 50,000 Carrier Screening
PGM1 Congenital disorder of glycosylation type It AR General Population <1 in 500 Carrier Screening
PGM3 Immunodeficiency 23 AR General Population <1 in 500 Carrier Screening
PHEX No carrier-frequency data published AR - See gene profile Newborn
PHF8 X-linked intellectual disability, Siderius type XL General Population <1 in 50,000 Carrier Screening
PHGDH Phosphoglycerate dehydrogenase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
PHKA1 Glycogen storage disease type IXd XL General Population <1 in 50,000 Carrier Screening
PHKA2 Glycogen storage disease type IXa XL General Population <1 in 50,000 Carrier Screening
PHKB Glycogen storage disease type IXb AR General Population <1 in 500 Carrier Screening
PHKG2 Glycogen storage disease type IXc AR General Population <1 in 500 Carrier Screening
PHYH Refsum disease AR General Population <1 in 500 Carrier Screening
PIDD1 Autosomal recessive intellectual developmental disorder 75 AR General Population <1 in 500 Carrier Screening
PIGA PIGA-related disorders (X-linked) XL General Population <1 in 50,000 Carrier Screening
PIGN Multiple congenital anomalies hypotonia seizures syndrome 1 AR General Population <1 in 500 Carrier Screening
PIGQ Developmental and epileptic encephalopathy 77 AR General Population <1 in 500 Carrier Screening
PIGS Glycosylphosphatidylinositol biosynthesis defect 18 AR General Population <1 in 500 Carrier Screening
PIGT Multiple congenital anomalies- hypotonia-seizures syndrome 3 AR General Population <1 in 500 Carrier Screening
PIP5K1C Lethal congenital contractural syndrome 3 AR General Population <1 in 500 Carrier Screening
PJVK Nonsyndromic hearing loss 59 AR General Population <1 in 500 Carrier Screening
PKD1 No carrier-frequency data published AD - See gene profile → PKD
PKD2 No carrier-frequency data published AD - See gene profile → PKDNewborn
PKHD1 Polycystic kidney disease, PKHD1-related AR General Population 1 in 70 Carrier ScreeningPKDNewborn
PKLR Pyruvate kinase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
PLA2G6 Infantile neuroaxonal dystrophy AR General Population 1 in 500 Carrier Screening
PLAA Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies AR General Population <1 in 500 Carrier Screening
PLCE1 Nephrotic Syndrome, PLCE1-Related AR General Population <1 in 500 Carrier Screening
PLD1 PLD1-related congenital heart disease AR General Population <1 in 500 Carrier Screening
PLEKHG5 PLEKHG5-related motor neuropathies AR General Population <1 in 500 Carrier Screening
PLOD1 Ehlers-Danlos syndrome with kyphoscoliosis, PLOD1-related AR General Population 1 in 159 Carrier Screening
PLOD2 Bruck syndrome 2 AR General Population <1 in 500 Carrier Screening
PLP1 PLP1-related disorders XL General Population <1 in 50,000 Carrier Screening
PMM2 PMM2-glycosylation disorders AR General Population 1 in 63 Carrier Screening
PMS2 Lynch syndrome (PMS2) European (Non-Finnish) Population 1 in 907 Cancer Screening
PMS2 Lynch syndrome (PMS2) South Asian Population 1 in 1,473 Cancer Screening
PMS2 Lynch syndrome (PMS2) Latino / Admixed American Population 1 in 1,863 Cancer Screening
PMS2 Lynch syndrome (PMS2) African / African American Population 1 in 2,117 Cancer Screening
PMS2 Lynch syndrome (PMS2) Ashkenazi Jewish Population 1 in 3,258 Cancer Screening
PMS2 Lynch syndrome (PMS2) East Asian Population 1 in 4,932 Cancer Screening
PNP Purine nucleoside phosphorylase deficiency AR General Population <1 in 500 Carrier Screening
PNPLA1 Autosomal recessive congenital ichthyosis 10 AR General Population <1 in 500 Carrier Screening
PNPO Pyridoxamine 5’-phosphate oxidase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome AR General Population <1 in 500 Carrier Screening
POLD1 No carrier-frequency data published AD - See gene profile → Cancer Screening
POLE No carrier-frequency data published AD - See gene profile → Cancer Screening
POLG POLG-related disorders AR General Population 1 in 113 Carrier Screening
POLG Chronic progressive external ophthalmoplegia AR East Asian Population 1 in 4,962 Carrier Screening
POLG Chronic progressive external ophthalmoplegia AR African / African American Population 1 in 10,359 Carrier Screening
POLG Chronic progressive external ophthalmoplegia AR Latino / Admixed American Population 1 in 11,181 Carrier Screening
POLG Chronic progressive external ophthalmoplegia AR European (Non-Finnish) Population 1 in 15,884 Carrier Screening
POLH Xeroderma pigmentosum AR General Population <1 in 500 Carrier Screening
POLR1C POLR1C-related disorders AR General Population <1 in 500 Carrier Screening
POLR3B POLR3B-related disorder AR General Population <1 in 500 Carrier Screening
POMGNT1 POMGNT1 Alpha- dystroglycanopathies AR General Population 1 in 462 Carrier Screening
POMGNT2 POMGNT2 Alpha- dystroglycanopathies AR General Population 1 in 500 Carrier Screening
POMT1 POMT1 Alpha- dystroglycanopathies AR General Population 1 in 290 Carrier Screening
POMT2 POMT2 Alpha- dystroglycanopathies AR General Population 1 in 371 Carrier Screening
POR Antley-Bixler syndrome AR General Population 1 in 159 Carrier ScreeningNewborn
POU1F1 Combined pituitary hormone deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
POU3F4 X-linked hearing loss, POU3F4-related XL General Population <1 in 50,000 Carrier Screening
PPIB Osteogenesis imperfecta, type IX AR General Population <1 in 500 Carrier Screening
PPP1R13L Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities AR General Population <1 in 500 Carrier Screening
PPT1 Neuronal ceroid lipofuscinosis, PPT1-related AR General Population 1 in 368 Carrier Screening
PQBP1 Renpenning syndrome XL General Population <1 in 500 Carrier Screening
PRCD Retinitis pigmentosa 36 AR General Population <1 in 500 Carrier Screening
PRDM12 Hereditary sensory and autonomic neuropathy type VIII AR General Population <1 in 500 Carrier Screening
PRDM5 Brittle cornea syndrome 2 AR General Population <1 in 500 Carrier Screening
PREPL Congenital myasthenic syndrome 22 AR General Population <1 in 500 Carrier Screening
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2 AR General Population 1 in 149 Carrier ScreeningNewborn
PRICKLE1 Progressive myoclonic epilepsy, type 1B AR General Population <1 in 500 Carrier Screening
PRKDC PRKDC-related immunodeficiency AR General Population <1 in 500 Carrier Screening
PROP1 Combined pituitary hormone deficiency 2 AR General Population 1 in 45 Carrier ScreeningNewborn
PRPS1 No carrier-frequency data published Various - See gene profile Carrier Screening
PRRT2 No carrier-frequency data published AR - See gene profile Newborn
PSAP Metachromatic leukodystrophy due to saposin-b deficiency AR General Population <1 in 500 Carrier Screening
PTCH1 No carrier-frequency data published AD - See gene profile Newborn
PTEN Cowden syndrome Finnish Population 1 in 1,563 Cancer Screening
PTEN Cowden syndrome Latino / Admixed American Population 1 in 2,110 Cancer Screening
PTEN Cowden syndrome Ashkenazi Jewish Population 1 in 3,578 Cancer Screening
PTEN Cowden syndrome East Asian Population 1 in 4,083 Cancer Screening
PTEN Cowden syndrome European (Non-Finnish) Population 1 in 4,462 Cancer Screening
PTEN Cowden syndrome South Asian Population 1 in 6,268 Cancer Screening
PTPN11 Noonan syndrome Ashkenazi Jewish Population 1 in 6,531 NewbornKNOVA NIPT
PTPN11 Noonan syndrome African / African American Population 1 in 10,333 NewbornKNOVA NIPT
PTPN11 Noonan syndrome European (Non-Finnish) Population 1 in 11,338 NewbornKNOVA NIPT
PTPN11 Noonan syndrome Finnish Population 1 in 13,354 NewbornKNOVA NIPT
PTPN11 Noonan syndrome South Asian Population 1 in 21,561 NewbornKNOVA NIPT
PTPRC PTPRC related-severe combined immunodeficiency AR General Population <1 in 500 Carrier ScreeningNewborn
PTS Tetrahydrobiopterin deficiency AR General Population 1 in 354 Carrier ScreeningNewborn
PUS1 Mitochondrial myopathy and sideroblastic anemia 1 AR General Population <1 in 500 Carrier Screening
PYCR1 Cutis laxa type IIB and type IIIB AR General Population <1 in 500 Carrier Screening
PYGL Glycogen storage disease VI AR General Population <1 in 500 Carrier ScreeningNewborn
PYGM Glycogen storage disease type V AR General Population <1 in 500 Carrier Screening
QDPR Tetrahydrobiopterin deficiency, QDPR-related AR General Population <1 in 500 Carrier ScreeningNewborn
RAB23 Carpenter syndrome AR General Population <1 in 500 Carrier Screening
RAD21 No carrier-frequency data published AR - See gene profile → KNOVA NIPT
RAD51C No carrier-frequency data published AD - See gene profile → Cancer Screening
RAD51D No carrier-frequency data published AD - See gene profile Cancer Screening
RAF1 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
RAG1 Omenn syndrome, RAG1-related AR General Population 1 in 290 Carrier ScreeningNewborn
RAG1 AR European (Non-Finnish) Population 1 in 5,560 Carrier ScreeningNewborn
RAG1 AR South Asian Population 1 in 10,782 Carrier ScreeningNewborn
RAG1 AR Latino / Admixed American Population 1 in 11,181 Carrier ScreeningNewborn
RAG2 Omenn syndrome, RAG2-related AR General Population 1 in 137 Carrier ScreeningNewborn
RAG2 AR South Asian Population 1 in 1,106 Carrier ScreeningNewborn
RAG2 AR Ashkenazi Jewish Population 1 in 1,307 Carrier ScreeningNewborn
RAG2 AR European (Non-Finnish) Population 1 in 2,138 Carrier ScreeningNewborn
RAG2 AR Finnish Population 1 in 3,338 Carrier ScreeningNewborn
RAG2 AR African / African American Population 1 in 6,915 Carrier ScreeningNewborn
RAG2 AR Latino / Admixed American Population 1 in 11,181 Carrier ScreeningNewborn
RAPSN RAPSN-associated acetylcholine receptor deficiency AR General Population <1 in 500 Carrier Screening
RARS2 Pontocerebellar hypoplasia type 6 AR General Population <1 in 500 Carrier Screening
RASGRP1 Immunodeficiency 64 AR General Population <1 in 500 Carrier Screening
RAX Microphthalmia, isolated 3 AR General Population 1 in 289 Carrier Screening
RB1 No carrier-frequency data published AD - See gene profile → Newborn
RBL2 Brunet-Wagner neurodevelopmental syndrome AR General Population <1 in 500 Carrier Screening
RBM10 TARP syndrome XL General Population <1 in 50,000 Carrier Screening
RD3 Leber congenital amaurosis 12 AR General Population <1 in 500 Carrier Screening
RDH12 Leber congenital amaurosis type 13 AR General Population <1 in 500 Carrier Screening
RDH5 Fundus albipunctatus AR General Population <1 in 500 Carrier Screening
RECQL4 RECQL4-related conditions AR General Population <1 in 500 Carrier Screening
RET No carrier-frequency data published AD - See gene profile → Cancer Screening
RFX5 Bare lymphocyte syndrome type II AR General Population <1 in 500 Carrier ScreeningNewborn
RFXANK MHC class II deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
RFXAP Bare lymphocyte syndrome type II AR General Population <1 in 500 Carrier ScreeningNewborn
RHAG Rh Deficiency syndrome AR General Population <1 in 500 Carrier Screening
RIT1 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
RLBP1 Retinal dystrophy, RLBP1-related AR General Population 1 in 296 Carrier Screening
RMRP Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorder AR General Population <1 in 500 Carrier Screening
RMRP AR Latino / Admixed American Population 1 in 349 Carrier Screening
RMRP AR East Asian Population 1 in 355 Carrier Screening
RMRP AR Finnish Population 1 in 865 Carrier Screening
RMRP AR European (Non-Finnish) Population 1 in 1,516 Carrier Screening
RMRP AR African / African American Population 1 in 2,807 Carrier Screening
RMRP AR South Asian Population 1 in 3,482 Carrier Screening
RNASEH2A Aicardi-Goutieres syndrome 4 AR General Population <1 in 500 Carrier Screening
RNASEH2B Aicardi Goutieres syndrome 2 AR General Population 1 in 217 Carrier Screening
RNASEH2C Aicardi-Goutieres syndrome 3 AR General Population <1 in 500 Carrier Screening
RNF43 No carrier-frequency data published AD - See gene profile → Cancer Screening
ROGDI Kohlschutter-Tonz syndrome AR General Population <1 in 500 Carrier Screening
RP2 X-linked Retinitis pigmentosa, RP2-related XL General Population 1 in 4,000 Carrier Screening
RPE65 RPE65-related retinopathy AR General Population 1 in 228 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR African / African American Population 1 in 242 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR Latino / Admixed American Population 1 in 430 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR European (Non-Finnish) Population 1 in 492 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR East Asian Population 1 in 536 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR South Asian Population 1 in 937 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR Finnish Population 1 in 2,968 Carrier Screening
RPE65 Leber congenital amaurosis (RPE65) AR Ashkenazi Jewish Population 1 in 4,356 Carrier Screening
RPGR X-linked RPGR-related retinopathy XL General Population 1 in 3,000 Carrier Screening
RPGR Retinitis pigmentosa (multiple) XL European (Non-Finnish) Population 1 in 28,023 Carrier Screening
RPGRIP1 Leber congenital amaurosis and Cone-rod dystrophy AR General Population <1 in 500 Carrier Screening
RPGRIP1L RPGRIP1L-related ciliopathies AR General Population 1 in 259 Carrier Screening
RPL10 X-linked intellectual disability, RPL10-related XL General Population <1 in 50,000 Carrier Screening
RPS6KA3 Coffin-Lowry syndrome XL General Population 1 in 66,700 Carrier Screening
RS1 Juvenile retinoschisis, X-linked XL General Population 1 in 2,500 Carrier Screening
RS1 X-linked juvenile retinoschisis XL Finnish Population 1 in 10,133 Carrier Screening
RS1 X-linked juvenile retinoschisis XL European (Non-Finnish) Population 1 in 16,191 Carrier Screening
RSPH9 Primary ciliary dyskinesia 12 AR General Population <1 in 500 Carrier Screening
RTEL1 Dyskeratosis congenita type 5 AR General Population 1 in 500 Carrier Screening
RUNX2 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
RXYLT1 Congenital muscular dystrophy- dystroglycanopathy with brain and eye anomalies (type A) AR General Population <1 in 500 Carrier Screening
RYR1 Malignant hyperthermia and other RYR1-related myopathies AR General Population <1 in 500 Carrier Screening
RYR1 Malignant hyperthermia susceptibility European (Non-Finnish) Population 1 in 643 Carrier Screening
RYR1 Malignant hyperthermia susceptibility African / African American Population 1 in 1,093 Carrier Screening
RYR1 Malignant hyperthermia susceptibility South Asian Population 1 in 1,724 Carrier Screening
RYR1 Malignant hyperthermia susceptibility Latino / Admixed American Population 1 in 1,863 Carrier Screening
RYR1 Malignant hyperthermia susceptibility Finnish Population 1 in 2,047 Carrier Screening
RYR1 Malignant hyperthermia susceptibility East Asian Population 1 in 9,925 Carrier Screening
SACS Autosomal recessive spastic ataxia of Charlevoix-Saguenay AR General Population <1 in 500 Carrier Screening
SAG Retinitis pigmentosa 47 AR General Population 1 in 228 Carrier Screening
SAMD9 SAMD9-related conditions AR General Population <1 in 500 Carrier Screening
SAMHD1 Aicardi-Goutieres syndrome AR General Population <1 in 500 Carrier Screening
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome AR General Population <1 in 500 Carrier Screening
SASH3 X-linked combined immunodeficiency XL General Population <1 in 50,000 Carrier Screening
SBDS Shwachman-Diamond syndrome AR General Population <1 in 500 Carrier Screening
SCAPER Intellectual developmental disorder and retinitis pigmentosa AR General Population <1 in 500 Carrier Screening
SCARB2 Action Myoclonus-Renal Failure Syndrome AR General Population <1 in 500 Carrier Screening
SCN1A Dravet syndrome AR African / African American Population 1 in 10,343 Newborn
SCN1A Dravet syndrome AR South Asian Population 1 in 21,559 Newborn
SCN1A Dravet syndrome AR European (Non-Finnish) Population 1 in 138,872 Newborn
SCN2A No carrier-frequency data published Various - See gene profile Newborn
SCN8A No carrier-frequency data published Various - See gene profile Newborn
SCN9A SCN9A-related conditions AR General Population <1 in 500 Carrier Screening
SCNN1A No carrier-frequency data published AR - See gene profile Newborn
SCNN1B No carrier-frequency data published AR - See gene profile Newborn
SCO1 Mitochondrial complex IV deficiency AR General Population <1 in 500 Carrier Screening
SCO2 Mitochondrial complex IV deficiency AR General Population 1 in 150 Carrier Screening
SDCCAG8 Bardet-Biedl syndrome and Senior- Loken syndrome AR General Population <1 in 500 Carrier Screening
SDHA Mitochondrial complex II deficiency AR General Population <1 in 500 Carrier ScreeningCancer Screening
SDHB No carrier-frequency data published AD - See gene profile → Cancer Screening
SDHC No carrier-frequency data published AD - See gene profile → Cancer Screening
SDHD No carrier-frequency data published AD - See gene profile → Cancer Screening
SDR9C7 Autosomal recessive congenital ichthyosis AR General Population <1 in 500 Carrier Screening
SEC23B Congenital dyserythropoietic anemia, type II AR General Population <1 in 500 Carrier Screening
SELENOI Spastic paraplegia 81 AR General Population <1 in 500 Carrier Screening
SELENON Rigid spine muscular dystrophy AR General Population <1 in 500 Carrier Screening
SEPSECS Pontocerebellar hypoplasia type 2D AR General Population <1 in 500 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency AR General Population 1 in 33 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR Latino / Admixed American Population 1 in 15 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR Ashkenazi Jewish Population 1 in 29 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR African / African American Population 1 in 51 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR Finnish Population 1 in 59 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR Middle Eastern Population 1 in 78 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR East Asian Population 1 in 535 Carrier Screening
SERPINA1 Alpha-1 antitrypsin deficiency (liver) AR South Asian Population 1 in 2,270 Carrier Screening
SERPINF1 Osteogenesis imperfecta, type VI AR General Population <1 in 500 Carrier Screening
SGCA Limb-girdle muscular dystrophy, type 2D AR General Population <1 in 500 Carrier Screening
SGCA AR Ashkenazi Jewish Population 1 in 653 Carrier Screening
SGCA AR Latino / Admixed American Population 1 in 658 Carrier Screening
SGCA AR South Asian Population 1 in 863 Carrier Screening
SGCA AR Middle Eastern Population 1 in 961 Carrier Screening
SGCA AR East Asian Population 1 in 3,970 Carrier Screening
SGCA AR African / African American Population 1 in 5,194 Carrier Screening
SGCB Limb-girdle muscular dystrophy, type 2E AR General Population 1 in 500 Carrier Screening
SGCB AR South Asian Population 1 in 4,792 Carrier Screening
SGCB AR African / African American Population 1 in 8,369 Carrier Screening
SGCB AR European (Non-Finnish) Population 1 in 20,587 Carrier Screening
SGCD Limb-girdle muscular dystrophy, type 2F AR General Population <1 in 500 Carrier Screening
SGCD AR African / African American Population 1 in 10,389 Carrier Screening
SGCD AR European (Non-Finnish) Population 1 in 69,391 Carrier Screening
SGCG Limb-girdle muscular dystrophy, type 2C AR General Population 1 in 381 Carrier Screening
SGCG AR Latino / Admixed American Population 1 in 7,454 Carrier Screening
SGSH Mucopolysaccharidosis IIIA (Sanfilippo syndrome A) AR General Population 1 in 454 Carrier Screening
SGSM3 SGSM3-Related Intellectual Disability AR General Population < 1 in 500 Carrier Screening
SH3TC2 Charcot-Marie-Tooth disease, SH3TC2-related AR General Population 1 in 69 Carrier Screening
SHOC2 European (Non-Finnish) Population 1 in 138,937 KNOVA NIPT
SKI No carrier-frequency data published - See gene profile → KNOVA NIPT
SKIV2L Trichohepatoenteric syndrome 2 AR General Population <1 in 500 Carrier Screening
SLC12A1 Bartter syndrome, type 1 AR General Population <1 in 500 Carrier Screening
SLC12A3 Gitelman syndrome AR General Population 1 in 100 Carrier Screening
SLC12A6 Andermann syndrome AR General Population <1 in 500 Carrier Screening
SLC16A2 Allan-Herndon-Dudley syndrome XL General Population <1 in 500 Carrier Screening
SLC17A5 Sialic acid storage disorder AR General Population <1 in 500 Carrier Screening
SLC18A3 Congenital myasthenic syndrome 21 AR General Population <1 in 500 Carrier Screening
SLC19A2 Thiamine-responsive megaloblastic anemia syndrome AR General Population <1 in 500 Carrier Screening
SLC19A3 Biotin-responsive basal ganglia disease AR General Population 1 in 109 Carrier Screening
SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly syndrome AR General Population <1 in 500 Carrier Screening
SLC22A5 Systemic primary carnitine deficiency AR General Population 1 in 129 Carrier ScreeningNewborn
SLC25A13 Citrin deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
SLC25A15 Hyperornithinemia- hyperammonemia- homocitrullinemia syndrome (Triple H syndrome) AR General Population <1 in 500 Carrier ScreeningNewborn
SLC25A20 Carnitine-acylcarnitine translocase deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
SLC25A24 No carrier-frequency data published - See gene profile → KNOVA NIPT
SLC26A2 SLC26A2-related disorders AR General Population 1 in 158 Carrier Screening
SLC26A3 Congenital secretory chloride diarrhea AR General Population <1 in 500 Carrier Screening
SLC26A4 Pendred syndrome AR General Population 1 in 80 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR Ashkenazi Jewish Population 1 in 70 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR South Asian Population 1 in 128 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR East Asian Population 1 in 161 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR European (Non-Finnish) Population 1 in 215 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR Latino / Admixed American Population 1 in 639 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR Finnish Population 1 in 1,213 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR Middle Eastern Population 1 in 1,441 Carrier ScreeningNewborn
SLC26A4 DFNB4/Enlarged vestibular aqueduct AR African / African American Population 1 in 2,595 Carrier ScreeningNewborn
SLC27A4 Ichthyosis prematurity syndrome AR General Population <1 in 500 Carrier Screening
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome AR General Population <1 in 500 Carrier Screening
SLC2A1 No carrier-frequency data published AR - See gene profile Newborn
SLC2A10 Arterial tortuosity syndrome AR General Population 1 in 300 Carrier Screening
SLC2A2 Fanconi-Bickel syndrome AR General Population <1 in 500 Carrier Screening
SLC30A9 Birk-Landau-Perez syndrome AR General Population <1 in 500 Carrier Screening
SLC34A3 Hereditary hypophosphatemic rickets with hypercalciuria AR General Population <1 in 500 Carrier ScreeningNewborn
SLC35A2 Congenital disorder of glycosylation type IIm XL General Population <1 in 50,000 Carrier Screening
SLC35A3 Arthrogryposis, intellectual disability, and seizures AR General Population <1 in 500 Carrier Screening
SLC37A4 Glycogen storage disease, type Ib AR General Population 1 in 158 Carrier ScreeningNewborn
SLC38A8 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis AR General Population <1 in 500 Carrier Screening
SLC39A4 Acrodermatitis enteropathica AR General Population <1 in 500 Carrier ScreeningNewborn
SLC3A1 Cystinuria, type I AR General Population 1 in 50 Carrier Screening
SLC45A2 Oculocutaneous albinism, type IV AR General Population 1 in 159 Carrier ScreeningNewborn
SLC46A1 Hereditary folate malabsorption AR General Population <1 in 500 Carrier Screening
SLC4A1 Distal Renal Tubular Acidosis AR General Population <1 in 500 Carrier ScreeningNewborn
SLC4A11 Corneal endothelial dystrophy AR General Population <1 in 500 Carrier Screening
SLC4A4 Proximal Renal Tubular Acidosis- Ocular Anomaly Syndrome AR General Population <1 in 500 Carrier Screening
SLC5A5 Thyroid dyshormonogenesis, SLC5A5-related AR General Population <1 in 500 Carrier ScreeningNewborn
SLC6A19 Hartnup disorder AR General Population 1 in 87 Carrier Screening
SLC6A8 Creatine deficiency syndrome XL General Population 1 in 3,434 Carrier Screening
SLC6A9 Atypical glycine encephalopathy AR General Population <1 in 500 Carrier Screening
SLC7A7 Lysinuric protein intolerance AR General Population <1 in 500 Carrier ScreeningNewborn
SLC7A9 Cystinuria, non-type I AR General Population 1 in 42 Carrier Screening
SLCO1B1 No carrier-frequency data published Polygenic - See gene profile → pgx
SMAD3 No carrier-frequency data published AD - See gene profile → Newborn
SMAD4 No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewborn
SMARCAL1 Schimke immunoosseous dysplasia AR General Population 1 in 500 Carrier Screening
SMC1A No carrier-frequency data published XLD - See gene profile → KNOVA NIPT
SMC3 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
SMN1 Spinal muscular atrophy AR General Population 1 in 54 Carrier ScreeningNewborn
SMN1 Spinal muscular atrophy silent carrier AR General Population 1 in 54 Carrier ScreeningNewborn
SMPD1 Niemann-Pick disease, type A/B AR General Population 1 in 250 Carrier ScreeningNewborn
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome AR General Population <1 in 500 Carrier Screening
SNRPB No carrier-frequency data published - See gene profile → KNOVA NIPT
SNX10 Osteopetrosis 8 AR General Population <1 in 500 Carrier Screening
SOS1 Noonan syndrome European (Non-Finnish) Population 1 in 50,531 KNOVA NIPT
SOS2 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
SOX10 No carrier-frequency data published Various - See gene profile Newborn
SOX9 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
SP110 Hepatic venoocclusive disease with immunodeficiency AR General Population <1 in 500 Carrier Screening
SPATA5 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities AR General Population <1 in 500
SPATA7 Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) AR General Population <1 in 500 Carrier Screening
SPECC1L No carrier-frequency data published - See gene profile → KNOVA NIPT
SPEG Centronuclear myopathy 5 AR General Population <1 in 500 Carrier Screening
SPG11 SPG11-related Neuromuscular Disorders AR General Population 1 in 159 Carrier Screening
SPG21 Mast syndrome AR General Population <1 in 500 Carrier Screening
SPG7 Spastic paraplegia type 7 AR General Population 1 in 159 Carrier Screening
SPINK5 Netherton syndrome AR General Population 1 in 224 Carrier Screening
SPR Sepiapterin Reductase Deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
SPTB No carrier-frequency data published AR - See gene profile Newborn
SRD5A2 5-alpha reductase deficiency AR General Population <1 in 500 Carrier Screening
ST3GAL5 Salt and pepper developmental regression syndrome AR General Population <1 in 500 Carrier Screening
STAR Lipoid congenital adrenal hyperplasia AR General Population <1 in 500 Carrier ScreeningNewborn
STAT1 Immunodeficiency 31B AR General Population <1 in 500 Carrier Screening
STAT3 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
STK11 No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewborn
STK4 Combined immunodeficiency due to STK4 deficiency AR General Population <1 in 500 Carrier Screening
STS X-linked ichthyosis XL General Population 1 in 1250 Carrier Screening
STX11 Familial hemophagocytic lymphohistiocytosis AR General Population 1 in 112 Carrier Screening
STXBP2 Familial hemophagocytic lymphohistiocytosis AR General Population 1 in 112 Carrier Screening
SUCLA2 Mitochondrial DNA depletion syndrome 5 AR General Population <1 in 500 Carrier Screening
SUMF1 Multiple sulfatase deficiency AR General Population 1 in 500 Carrier Screening
SUOX Sulfite oxidase deficiency AR General Population 1 in 300 Carrier Screening
SURF1 Leigh syndrome, SURF1-related AR General Population <1 in 500 Carrier ScreeningNewborn
SYN1 X-linked epilepsy with variable learning disabilities XL General Population <1 in 50,000 Carrier Screening
SYNE4 Autosomal recessive deafness 76 AR General Population <1 in 500 Carrier Screening
SZT2 Developmental and epileptic encephalopathy 18 AR General Population < 1 in 500 Carrier Screening
TAF2 TAF2-related intellectual disability AR General Population <1 in 500 Carrier Screening
TANGO2 Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration AR General Population <1 in 500 Carrier Screening
TAT Tyrosinemia, type II AR General Population 1 in 250 Carrier ScreeningNewborn
TAZ Barth syndrome XL General Population <1 in 50,000 Carrier ScreeningNewborn
TBCB No carrier-frequency data published - See gene profile Carrier Screening
TBCD Encephalopathy, progressive, early- onset, with brain atrophy and thin corpus callosum AR General Population <1 in 500 Carrier Screening
TBCE TBCE-related conditions AR General Population <1 in 500 Carrier Screening
TBX19 Adrenocorticotropic hormone deficiency AR General Population <1 in 500 Carrier Screening
TCF12 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
TCIRG1 Osteopetrosis 1 AR General Population 1 in 250 Carrier ScreeningNewborn
TCN2 Transcobalamin II deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
TCTN1 Joubert syndrome 13 AR General Population <1 in 500 Carrier Screening
TCTN2 TCTN2-related ciliopathies AR General Population <1 in 500 Carrier Screening
TCTN3 Joubert syndrome 18 AR General Population <1 in 500 Carrier Screening
TECPR2 Spastic paraplegia 49 AR General Population <1 in 500 Carrier Screening
TECRL Catecholaminergic polymorphic ventricular tachycardia 3 AR General Population <1 in 500 Carrier Screening
TECTA AR European (Non-Finnish) Population 1 in 2,059 Newborn
TECTA AR African / African American Population 1 in 10,368 Newborn
TERT Dyskeratosis congenita type 4 AR General Population <1 in 500 Carrier Screening
TF Atransferrinemia AR General Population 1 in 116 Carrier Screening
TFE3 X-linked intellectual disability, TFE3-related XL General Population <1 in 50,000 Carrier Screening
TFR2 Hemochromatosis, type 3 AR General Population <1 in 500 Carrier Screening
TFRC Immunodeficiency 46 AR General Population <1 in 500 Carrier Screening
TG Thyroid dyshormonogenesis, TG-related AR General Population 1 in 241 Carrier ScreeningNewborn
TGFBR1 No carrier-frequency data published AD - See gene profile → Newborn
TGFBR2 No carrier-frequency data published AD - See gene profile → Newborn
TGM1 Congenital ichthyosis AR General Population 1 in 224 Carrier Screening
TH Segawa syndrome AR General Population <1 in 500 Carrier ScreeningNewborn
THG1L Spinocerebellar ataxia 28 AR General Population < 1 in 500 Carrier Screening
THOC2 X-linked Intellectual disability, THOC2-related XL General Population <1 in 50,000 Carrier Screening
THRA No carrier-frequency data published Various - See gene profile Newborn
TIMM50 3-methylglutaconic aciduria type IX AR General Population <1 in 500 Carrier Screening
TJP2 TJP2-Related Disorders AR General Population <1 in 500 Carrier Screening
TK2 Mitochondrial DNA depletion syndrome 2 AR General Population <1 in 500 Carrier Screening
TKT Short stature, developmental delay, and congenital heart defects AR General Population < 1 in 500 Carrier Screening
TMC1 Nonsyndromic hearing loss 7 AR General Population <1 in 500 Carrier Screening
TMEM107 TMEM107-related disorders AR General Population <1 in 500 Carrier Screening
TMEM127 No carrier-frequency data published AD - See gene profile → Cancer Screening
TMEM138 Joubert syndrome 16 AR General Population <1 in 500 Carrier Screening
TMEM216 TMEM216-related ciliopathies AR General Population 1 in 141 Carrier Screening
TMEM231 Joubert syndrome 20 AR General Population <1 in 500 Carrier Screening
TMEM237 Joubert syndrome 14 AR General Population <1 in 500 Carrier Screening
TMEM38B Osteogenesis imperfecta, type XIV AR General Population <1 in 500 Carrier Screening
TMEM67 COACH syndrome AR General Population <1 in 500 Carrier Screening
TMEM70 Mitochondrial complex V deficiency type 2 AR General Population <1 in 500 Carrier Screening
TMEM94 Intellectual developmental disorder with cardiac defects and dysmorphic facies AR General Population <1 in 500 Carrier Screening
TMIE No carrier-frequency data published Various - See gene profile Newborn
TMPRSS3 Nonsyndromic hearing loss, TMPRSS3-related AR General Population 1 in 500 Carrier ScreeningNewborn
TNFRSF9 Immunodeficiency 109 with lymphoproliferation AR General Population <1 in 500 Carrier Screening
TNFSF11 Osteopetrosis 2 AR General Population 1 in 250 Carrier Screening
TNNT1 Nemaline myopathy 5 AR General Population <1 in 500 Carrier Screening
TNR Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus AR General Population <1 in 500 Carrier Screening
TNXB Ehlers–Danlos-like syndrome due to tenascin-X deficiency AR General Population <1 in 500 Carrier Screening
TP53 Li-Fraumeni syndrome Ashkenazi Jewish Population 1 in 6,534 Cancer Screening
TP53 Li-Fraumeni syndrome European (Non-Finnish) Population 1 in 9,928 Cancer Screening
TPMT No carrier-frequency data published AD - See gene profile pgx
TPO Thyroid dyshormonogenesis, TPO-related AR General Population 1 in 373 Carrier ScreeningNewborn
TPP1 Neuronal ceroid lipofuscinosis, TPP1-related AR General Population 1 in 252 Carrier Screening
TPRN No carrier-frequency data published Various - See gene profile Newborn
TRAF3IP1 Senior-Loken syndrome 9 AR General Population <1 in 500
TRAF7 No carrier-frequency data published - See gene profile → KNOVA NIPT
TRAPPC11 Limb-girdle muscular dystrophy 18 AR General Population <1 in 500 Carrier Screening
TRAPPC6B Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy AR General Population <1 in 500 Carrier Screening
TRDN Catecholaminergic polymorphic ventricular tachycardia AR General Population 1 in 354 Carrier Screening
TREX1 Aicardi-Goutieres syndrome 1 AR General Population <1 in 500 Carrier Screening
TRHR Generalized thyrotropin-releasing hormone resistance AR General Population <1 in 500 Carrier ScreeningNewborn
TRIM32 TRIM32-related disorders AR General Population <1 in 500 Carrier Screening
TRIM37 Mulibrey nanism AR General Population <1 in 500 Carrier Screening
TRIOBP No carrier-frequency data published Various - See gene profile Newborn
TRIP11 TRIP11-related skeletal dysplasia AR General Population <1 in 500 Carrier Screening
TRMU Liver failure, acute infantile AR General Population <1 in 500 Carrier ScreeningNewborn
TRPM6 Hypomagnesemia 1 AR General Population <1 in 500 Carrier Screening
TSC1 No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewbornKNOVA NIPT
TSC2 No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewbornKNOVA NIPT
TSEN2 Pontocerebellar hypoplasia type 2B AR General Population <1 in 500 Carrier Screening
TSEN34 Pontocerebellar hypoplasia type 2C AR General Population <1 in 500 Carrier Screening
TSEN54 Pontocerebellar hypoplasia type 2A AR General Population 1 in 250 Carrier Screening
TSFM Combined oxidative phosphorylation deficiency, TSFM-related AR General Population <1 in 500 Carrier Screening
TSHB Congenital hypothyroidism, TSHB-related AR General Population 1 in 500 Carrier ScreeningNewborn
TSHR Congenital hypothyroidism, TSHR-related AR General Population 1 in 500 Carrier ScreeningNewborn
TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis AR General Population 1 in 140 Carrier Screening
TTC37 Trichohepatoenteric syndrome AR General Population 1 in 500 Carrier Screening
TTC7A Gastrointestinal defects and immunodeficiency syndrome AR General Population <1 in 500 Carrier Screening
TTC8 Bardet-Biedl syndrome 8 AR General Population <1 in 500 Carrier Screening
TTN TTN-related conditions AD, AR General Population <1 in 500 Carrier Screening
TTPA Ataxia with isolated vitamin E deficiency AR General Population <1 in 500 Carrier ScreeningNewborn
TULP1 TULP1-related retinal disorders AR General Population <1 in 500 Carrier Screening
TWIST1 No carrier-frequency data published AD - See gene profile → KNOVA NIPT
TWNK Mitochondrial DNA depletion syndrome 7 AR General Population <1 in 500 Carrier Screening
TYMP Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease AR General Population <1 in 500 Carrier Screening
TYR Oculocutaneous albinism types 1A and 1B AR General Population 1 in 100 Carrier Screening
TYRP1 Oculocutaneous albinism, type III AR General Population <1 in 500 Carrier Screening
UBA1 UBA1-Related Spinal Muscular Atrophy, X-Linked Infantile XL General Population 1 in 750,000 Carrier Screening
UBR1 Johanson-Blizzard syndrome AR General Population 1 in 250 Carrier Screening
UGT1A1 Crigler-Najjar syndrome AR General Population <1 in 500 Carrier ScreeningNewbornpgx
UNC13D Familial hemophagocytic lymphohistiocytosis type 3 AR General Population 1 in 149 Carrier Screening
UNC80 Hypotonia, infantile, with psychomotor impairment and characteristic facies 2 AR General Population <1 in 500 Carrier Screening
UNG Immunodeficiency with Hyper IgM syndrome AR General Population <1 in 500 Carrier Screening
UPB1 Beta-ureidopropionase deficiency AR General Population <1 in 500 Carrier Screening
UPF3B Lujan-Fryns syndrome, UPF3B-related XL General Population <1 in 50,000 Carrier Screening
UQCRQ Mitochondrial complex III deficiency AR General Population <1 in 500 Carrier Screening
USH1C USH1C-related disorders AR General Population 1 in 353 Carrier ScreeningNewborn
USH1G Usher syndrome type IG AR General Population 1 in 434 Carrier ScreeningNewborn
USH2A Usher syndrome, type 2A AR General Population 1 in 126 Carrier ScreeningNewborn
USH2A Retinitis pigmentosa (multiple) AR Latino / Admixed American Population 1 in 230 Carrier ScreeningNewborn
USH2A Retinitis pigmentosa (multiple) AR South Asian Population 1 in 599 Carrier ScreeningNewborn
USH2A Retinitis pigmentosa (multiple) AR African / African American Population 1 in 649 Carrier ScreeningNewborn
USH2A Retinitis pigmentosa (multiple) AR East Asian Population 1 in 1,240 Carrier ScreeningNewborn
USP9X X-linked intellectual disability, USP9X-related XL General Population <1 in 50,000 Carrier Screening
VDR Vitamin D-dependent rickets, type 2A AR General Population <1 in 500 Carrier ScreeningNewborn
VHL No carrier-frequency data published AD - See gene profile → Cancer ScreeningNewborn
VLDLR Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1 AR General Population <1 in 500 Carrier Screening
VPS11 Hypomyelinating leukodystrophy-12 AR General Population <1 in 500 Carrier Screening
VPS13A Choreoacanthocytosis AR General Population <1 in 500 Carrier Screening
VPS13B Cohen syndrome AR General Population <1 in 500 Carrier Screening
VPS37A Spastic paraplegia 53 AR General Population <1 in 500 Carrier Screening
VPS45 Severe congenital neutropenia, VPS45-related AR General Population 1 in 224 Carrier Screening
VPS53 Pontocerebellar hypoplasia type 2E AR General Population <1 in 500 Carrier Screening
VRK1 Pontocerebellar hypoplasia type 1A AR General Population <1 in 500 Carrier Screening
VSX2 Microphthalmia with or without coloboma AR General Population 1 in 91 Carrier Screening
WAS WAS-related hematopoietic disorder XL General Population 1 in 125,000 Carrier Screening
WDPCP Bardet-Biedl syndrome 15 AR General Population <1 in 500 Carrier Screening
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly AR General Population <1 in 500 Carrier Screening
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations AR General Population <1 in 500 Carrier Screening
WHRN Usher syndrome type 2D AR General Population 1 in 282 Carrier ScreeningNewborn
WISP3 Progressive pseudorheumatoid dysplasia AR General Population <1 in 500 Carrier Screening
WNT1 Osteogenesis imperfecta type 15 AR General Population <1 in 500 Carrier Screening
WNT10A WNT10A-related ectodermal dysplasias AR General Population <1 in 500 Carrier Screening
WRN Werner syndrome AR General Population 1 in 308 Carrier Screening
WT1 No carrier-frequency data published AD - See gene profile → Newborn
WWOX WWOX-related disorders AR General Population <1 in 500 Carrier Screening
XPA Xeroderma pigmentosum, group A AR General Population 1 in 500 Carrier ScreeningNewborn
XPC Xeroderma pigmentosum, group C AR General Population 1 in 500 Carrier ScreeningNewborn
XRCC2 Fanconi anemia group U AR General Population <1 in 500 Carrier Screening
YARS Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 AR General Population <1 in 500
ZAP70 ZAP70-related Immunodeficiency AR General Population <1 in 500 Carrier ScreeningNewborn
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 AR General Population <1 in 500 Carrier Screening
ZDHHC9 X-linked intellectual disability, ZDHHC9-related XL General Population <1 in 50,000 Carrier Screening
ZFYVE26 Spastic paraplegia 15 AR General Population <1 in 500 Carrier Screening
ZIC1 No carrier-frequency data published - See gene profile → KNOVA NIPT
ZIC3 ZIC3-Related Disorders XL General Population 1 in 750,000 Carrier ScreeningNewborn
ZNF341 Hyper-IgE syndrome 3 AR General Population <1 in 500 Carrier Screening
ZNF469 Brittle cornea syndrome 1 AR General Population <1 in 500 Carrier Screening
ZNF711 X-linked intellectual disability, ZNF711-related XL General Population <1 in 50,000 Carrier Screening
ZNHIT3 PEHO syndrome AR General Population <1 in 500 Carrier Screening
Sources: 1,006 rows from Fulgent Beacon Carrier Screening Supplementary Table (2026-V1) (epidemiology-curated, general-population rates) · 308 rows computed from gnomAD v4.1 (allele-frequency × ClinVar P/LP overlay; expert-panel-reviewed variants)

Sources

Important disclaimers