{{Rsnum
|rsid=104894825
|Gene=GJB1
|Chromosome=X
|position=71224411
|Orientation=plus
|GMAF=0.001814
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=GJB1
}}{{omim
|id=304040
|rsnum=104894825
|variant=0020
}}{{ClinVar
|rsid=104894825
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=70444261
|CHROM=X
|GMAF=0.00180832
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000040016110100
|GENEINFO=GJB1:2705
|GENE_NAME=GJB1
|GENE_ID=2705
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.70444261T>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1374; 304040.0020
|CLNSIG=5
|CLNCUI=C0393808
|CLNDBN=X-linked hereditary motor and sensory neuropathy
|Disease=X-linked hereditary motor and sensory neuropathy
|CLNACC=RCV000011195.4
|Tags=PM;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001814
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1374:C0393808:302800:101075:230552007
|COMMON=0
}}