ClinVar Miner

List of variants in gene RB1 reported as pathogenic by OMIM

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Total variants: 28
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HGVS dbSNP
NM_000321.2(RB1):c.-189G>T rs387906520
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.1049+1G>T rs587776782
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1215+1G>A rs587776783
NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.2(RB1):c.1436_1438ACA[1] (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.2(RB1):c.1760_1769del (p.Glu587fs) rs587776784
NM_000321.2(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.2(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer) rs587776785
NM_000321.2(RB1):c.1960+2T>C rs587776780
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.2023G>T (p.Glu675Ter) rs137853295
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.2(RB1):c.2212-1G>A rs587776786
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.2244del (p.Glu748fs) rs587776781
NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.2(RB1):c.2490-1398A>G rs587776791
NM_000321.2(RB1):c.2520+1del rs587776779
NM_000321.2(RB1):c.43_65dup (p.Pro23fs) rs587776790
NM_000321.2(RB1):c.607+1G>T rs587776789
NM_000321.2(RB1):c.979_1033dup (p.Thr345delinsLysLysTer) rs1555285429
RB1, 5-BP DEL, EX8
RB1, IVS20, A-G, -2

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