ClinVar Miner

List of variants reported as pathogenic for Hereditary breast and ovarian cancer syndrome by Department of Pathology and Molecular Medicine,Queen's University

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Total variants: 59
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HGVS dbSNP
NC_000017.10:g.(?_41201201)_(41209076_?)del
NM_000059.3(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.3(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.3(BRCA2):c.1798_1799TA[1] (p.Tyr600_Lys601delinsTer) rs1135401894
NM_000059.3(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.3(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3051del (p.Lys1018fs) rs80359367
NM_000059.3(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) rs80359393
NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) rs80359454
NM_000059.3(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.3(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) rs80359499
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6528_6535dup (p.Val2179fs) rs1555284738
NM_000059.3(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.3(BRCA2):c.688A>T (p.Lys230Ter) rs80358913
NM_000059.3(BRCA2):c.751_754ACAG[1] (p.Asp252fs) rs80359659
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.7617+2T>G rs81002843
NM_000059.3(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003
NM_000059.3(BRCA2):c.8533_8534AG[2] (p.Glu2846fs) rs80359714
NM_000059.3(BRCA2):c.8770G>T (p.Glu2924Ter) rs80359133
NM_000059.3(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.3(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) rs80357505
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.3(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer) rs80357899
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) rs80357687
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.3(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4348del (p.Ser1450fs) rs1135401932
NM_007294.3(BRCA1):c.4822dup (p.Ala1608fs) rs1135401933
NM_007294.3(BRCA1):c.4901_4919del (p.Arg1634fs) rs1555580678
NM_007294.3(BRCA1):c.5039_5040del (p.Ile1680fs) rs1135401935
NM_007294.3(BRCA1):c.5200_5201insC (p.Phe1734fs) rs1135401936
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914

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