ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant nonsyndromic hearing loss 20

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn) rs2544392281
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val) rs2544393285
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) rs2143779274
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) rs2143779222
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val) rs2031770749
NM_001614.5(ACTG1):c.494T>A (p.Ile165Asn)
NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr) rs2143778877
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) rs2143775790
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290

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