{{Rsnum
|rsid=111033222
|Gene=GJB2
|Chromosome=13
|position=20189571
|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=111033222
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=20763710
|CHROM=13
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000040016100100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763710C>T
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;PMC;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9995; 0.0004591
|CLNACC=RCV000037814.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|COMMON=0
|Disease=AllHighlyPenetrant
}}{{PMID Auto
|PMID=12792423
|Title=Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
}}

{{PMID Auto
|PMID=15070423
|Title=Molecular epidemiology of DFNB1 deafness in France.
|OA=1
}}

{{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
}}