ClinVar Miner

List of variants in gene USH2A reported by Pars Genome Lab

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Total variants: 5
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HGVS dbSNP
NM_206933.3(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901

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