ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 3A by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00021
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401 0.00001

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