ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.5385T>A (p.Tyr1795Ter)

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