ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)	rs1571947757
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)	rs1571701072

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