ClinVar Miner

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

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Total variants: 4
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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.10265G>A (p.Ser3422Asn) rs773660267
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503

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