ClinVar Miner

List of variants in gene RB1 reported by Database of Curated Mutations (DoCM)

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Total variants: 10
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HGVS dbSNP
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.2117G>T (p.Cys706Phe) rs121913295
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300

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