ClinVar Miner

List of variants reported as pathogenic for Retinoblastoma by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333-2A>G rs1555286503
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) rs2138145156
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs) rs2138327168
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs) rs2138342284
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs) rs2138344622
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) rs2138344925
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) rs2138344987
NM_000321.3(RB1):c.2325+1G>T rs1131690882
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs) rs2138345982
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer) rs2138087597
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.840dup (p.His281fs) rs2138112755
NM_000321.3(RB1):c.939+1G>A rs2138116708
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300

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