ClinVar Miner

List of variants reported as pathogenic for Retinoblastoma by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 15
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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.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter) rs1566197747
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1960+1316_2107-767del
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.92dup (p.Asp32fs) rs1566174147

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