List of variants in gene RB1 studied for endocrine gland neoplasm

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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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.850A>G (p.Asn284Asp)	rs761609284	0.00002
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)	rs181988132	0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val)	rs554727080	0.00001
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)	rs1429553692	0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)	rs772678500	0.00001
NM_000321.3(RB1):c.1215+1G>A	rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	rs3092891
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)	rs1593455667
NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)	rs121913295
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)	rs121913297
NM_000321.3(RB1):c.276T>G (p.Ile92Met)	rs1555282772
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)	rs764881599
NM_000321.3(RB1):c.607+1G>T	rs587776789

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