{{Rsnum
|rsid=104894408
|Gene=GJB2
|Chromosome=13
|position=20189548
|Orientation=minus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=GJB2
}}{{omim
|id=121011
|rsnum=104894408
|variant=0021
}}{{ClinVar
|rsid=104894408
|Reversed=1
|FwdREF=G
|FwdALT=C,T
|REF=C
|ALT=A,G
|RSPOS=20763687
|CHROM=13
|GMAF=0.0009
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000016110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000013.10:g.20763687C>A; NC_000013.10:g.20763687C>G
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=3142; 121011.0021
|CLNSIG=5
|CLNCUI=C1835678
|CLNDBN=Hereditary hearing loss and deafness; not provided; Keratitis-ichthyosis-deafness syndrome, autosomal dominant
|Disease=Hereditary hearing loss and deafness; not provided; Keratitis-ichthyosis-deafness syndrome
|CLNACC=RCV000037839.1; RCV000080371.1; RCV000018548.27
|Tags=RV;PM;PMC;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183; .
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1434:C0236038:95827002; C1835678:148210:477
|COMMON=1
}}{{PMID Auto
|PMID=15365987
|Title=GJB2: the spectrum of deafness-causing allele variants and their phenotype.
}}

{{PMID Auto
|PMID=17041943
|Title=DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
|OA=1
}}

{{PMID Auto
|PMID=17666888
|Title=A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
}}