ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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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.427C>T (p.Arg143Trp)	rs80338948	0.00021
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004

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