ClinVar Miner

List of variants in gene BRCA1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 30
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HGVS dbSNP
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1761A>C (p.Ile587=) rs1057523389
NM_007294.3(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335
NM_007294.3(BRCA1):c.2501G>A (p.Gly834Glu) rs757383244
NM_007294.3(BRCA1):c.252_254del (p.Glu85del) rs1064797221
NM_007294.3(BRCA1):c.301+7G>A rs80358113
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3341_3343AAG[1] (p.Glu1115del) rs80358336
NM_007294.3(BRCA1):c.3415_3417AGT[1] (p.Ser1140del) rs80358337
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4055A>T (p.Glu1352Val) rs879254228
NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365
NM_007294.3(BRCA1):c.429A>C (p.Glu143Asp) rs397507228
NM_007294.3(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.5586C>T (p.His1862=) rs774127304
NM_007294.3(BRCA1):c.755G>A (p.Arg252His) rs80357138
NM_007294.4(BRCA1):c.4154T>C (p.Leu1385Pro)
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly)
NM_007294.4(BRCA1):c.5074+7C>T
NM_007299.4(BRCA1):c.1018C>G (p.Arg340Gly) rs41293455
NM_007300.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007300.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) rs28897693
NM_007300.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007300.4(BRCA1):c.591C>T (p.Cys197=) rs1799965

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