ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Department of Ophthalmology and Visual Sciences Kyoto University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)	rs527236138
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer)	rs527236136

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