ClinVar Miner

List of variants in gene RB1 reported as pathogenic for carcinoma

Included ClinVar conditions (243):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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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.1172C>G (p.Ser391Ter)
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.2039T>C (p.Ile680Thr) rs1949384455
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.380+2T>C

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