ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Department of Pathology and Molecular Medicine, Queen's University

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NC_000017.11:g.(?_43049184)_(43057059_?)del
NC_000017.11:g.(?_43070991)_(43082575_?)del
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs) rs80357505
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer) rs80357899
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4348del (p.Ser1450fs) rs1135401932
NM_007294.4(BRCA1):c.4822dup (p.Ala1608fs) rs1135401933
NM_007294.4(BRCA1):c.4901_4919del (p.Arg1634fs) rs1555580678
NM_007294.4(BRCA1):c.5039_5040del (p.Ile1680fs) rs1135401935
NM_007294.4(BRCA1):c.5200_5201insC (p.Phe1734fs) rs1135401936
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914

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