ClinVar Miner

List of variants in gene RB1 reported by Clinical Genomics Lab,St. Jude Children's Research Hospital

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Total variants: 13
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HGVS dbSNP
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1215+1G>A rs587776783
NM_000321.2(RB1):c.1294A>T (p.Lys432Ter) rs1566197747
NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.2(RB1):c.2356C>T (p.Pro786Ser) rs754507551
NM_000321.2(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.2(RB1):c.381-1G>A rs1566186836
NM_000321.2(RB1):c.731T>C (p.Ile244Thr) rs147754935
NM_000321.2(RB1):c.92dup (p.Asp32fs) rs1566174147

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