ClinVar Miner

List of variants in gene USH2A reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.3(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599

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