{{Rsnum
|rsid=111033420
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=GJB2
|position=20189126
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033420
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=20763265
|CHROM=13
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763265G>T
|CLNORIGIN=1
|CLNSIG=4
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000037856.1
|CLNDBN=Hereditary hearing loss and deafness
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1434:C0236038:95827002
|Disease=Hereditary hearing loss and deafness
}}{{PMID Auto
|PMID=12865758
|Title=Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
}}

{{PMID Auto
|PMID=19366456
|Title=GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|OA=1
}}