ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 4
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NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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