ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 59 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	rs111706634	0.00001
NM_001042702.5(PJVK):c.1028G>C (p.Cys343Ser)
NM_001042702.5(PJVK):c.274C>T (p.Arg92Ter)

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