ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Department of Pathology and Molecular Medicine,Queen's University

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Total variants: 35
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HGVS dbSNP
NM_000059.3(BRCA2):c.1029delA (p.Lys343Asnfs) rs80359260
NM_000059.3(BRCA2):c.1054dupT (p.Tyr352Leufs) rs80359261
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397Leufs) rs397515635
NM_000059.3(BRCA2):c.1800_1801delTA (p.Tyr600Terfs) rs1135401894
NM_000059.3(BRCA2):c.1813delA (p.Ile605Tyrfs) rs80359306
NM_000059.3(BRCA2):c.2330dupA (p.Asp777Glufs) rs80359328
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3051delC (p.Lys1018Serfs) rs80359367
NM_000059.3(BRCA2):c.3170_3174delAGAAA (p.Lys1057Thrfs) rs80359373
NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) rs80359393
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.4638delT (p.Phe1546Leufs) rs80359462
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5130_5133delTGTA (p.Tyr1710Terfs) rs80359484
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) rs80359499
NM_000059.3(BRCA2):c.5576_5579delTTAA (p.Ile1859Lysfs) 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_6276delTT (p.Leu2092Profs) rs11571658
NM_000059.3(BRCA2):c.6528_6535dupCATTCATG (p.Val2179Alafs) rs1555284738
NM_000059.3(BRCA2):c.6591_6592delTG (p.Glu2198Asnfs) rs80359605
NM_000059.3(BRCA2):c.688A>T (p.Lys230Ter) rs80358913
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.755_758delACAG (p.Asp252Valfs) rs80359659
NM_000059.3(BRCA2):c.7617+2T>G rs81002843
NM_000059.3(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003
NM_000059.3(BRCA2):c.8537_8538delAG (p.Glu2846Glyfs) rs80359714
NM_000059.3(BRCA2):c.8770G>T (p.Glu2924Ter) rs80359133
NM_000059.3(BRCA2):c.8904delC (p.Val2969Cysfs) rs80359730
NM_000059.3(BRCA2):c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs) 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

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