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 gnomAD frequency
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.1800_1801del (p.Tyr600_Lys601delinsTer) rs1135401894
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.3051del (p.Lys1018fs) rs80359367
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.36dup (p.Glu13Ter) rs80359393
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.6528_6535dup rs1555284738
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter) rs80358913
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter) rs80359133
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752

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