ClinVar Miner

List of variants in gene RB1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.2(RB1):c.2489+1G>A rs764754259
NM_000321.2(RB1):c.607+1G>A rs587776789
NM_000321.2(RB1):c.607+1G>T rs587776789
NM_000321.2(RB1):c.861+2del rs1064795296
NM_000321.2(RB1):c.889del (p.Ile297fs) rs1555285133

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