ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by DASA

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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.617A>G (p.Asn206Ser)	rs111033294	0.00016
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002

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