ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190

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