ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 3
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NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264

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