ClinVar Miner

List of variants in gene RB1 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1389+4A>C rs1131690879
NM_000321.2(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.2(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.2(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.2(RB1):c.1421+12_1421+32del rs587781256
NM_000321.2(RB1):c.1421+1G>C rs1131690886
NM_000321.2(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.2(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.2(RB1):c.1498+1G>A rs1131690909
NM_000321.2(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.2(RB1):c.2107-1G>A rs587778860
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2325+1G>C rs1131690882
NM_000321.2(RB1):c.2520+5G>A rs1131690881
NM_000321.2(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.2(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.2(RB1):c.500+1G>T rs1131690880
NM_000321.2(RB1):c.607+2dup rs1131690895
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864

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