ClinVar Miner

List of variants studied for Usher syndrome type 2A by Department of Ophthalmology and Visual Sciences Kyoto University

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Total variants: 5
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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.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136

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