ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 59 by Institute of Rare Diseases, West China Hospital, Sichuan University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001042702.5(PJVK):c.199_200del (p.Glu67fs)
NM_001042702.5(PJVK):c.226C>T (p.Gln76Ter)
NM_001042702.5(PJVK):c.408-2A>G

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