ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017

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