ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A 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.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645

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