ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Department of Ophthalmology and Visual Sciences Kyoto University

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Total variants: 7
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NM_206933.3(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.8559-2A>G rs397518039

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