ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3 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: 5
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) rs1567638693
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) rs1555543432
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) rs1567618790
NM_016239.4(MYO15A):c.605C>A (p.Pro202His) rs1229200252
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) rs766250454

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