{{Rsnum
|rsid=111033294
|Gene=GJB2
|Chromosome=13
|position=20188965
|Orientation=minus
|GMAF=0.0004591
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=111033294
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=20763104
|CHROM=13
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000016100100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763104T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9995; 0.0004591
|CLNACC=RCV000037868.1
|CLNDBN=Hereditary hearing loss and deafness
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1434:C0236038:95827002
|COMMON=0
|Disease=Hereditary hearing loss and deafness
}}{{PMID Auto
|PMID=12172394
|Title=Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
}}

{{PMID Auto
|PMID=15967879
|Title=GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
}}