ClinVar Miner

List of variants in gene USH2A reported as pathogenic for USH2A-Related Disorders

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Total variants: 5
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HGVS dbSNP
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.1841-2A>G rs397518003
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.8271T>G (p.Tyr2757Ter)

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