List of variants in gene RB1 reported as pathogenic for carcinoma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.2359C>T (p.Arg787Ter)	rs137853293
NM_000321.3(RB1):c.380+2T>C
NM_000321.3(RB1):c.460A>T (p.Lys154Ter)
NM_000321.3(RB1):c.607+1G>T	rs587776789

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