ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) rs527236120
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.3(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016

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