ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2A by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)	rs2102554503

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