ClinVar Miner

List of variants in gene USH1C reported by Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_153676.4(USH1C):c.1399C>T (p.Arg467Trp) rs138996642 0.00017
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.424A>G (p.Ile142Val) rs771861342 0.00001
NM_153676.4(USH1C):c.893T>C (p.Met298Thr) rs1461497965 0.00001
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.658C>G (p.Arg220Gly) rs766327614

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