ClinVar Miner

List of variants in gene BRCA2 studied for Breast carcinoma

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1013del (p.Ala338fs) rs2137466855
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter) rs2072410817
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter) rs2137472200
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer) rs2137496671
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) rs80359451
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.643del (p.Glu215fs) rs2137458206
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter) rs397507859
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter) rs886040658
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs) rs1593909229
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.7632_7633del (p.Val2545fs) rs2137566201
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter) rs587781506
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs) rs80359709
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser) rs878853614
NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs) rs2137622356
NM_000059.4(BRCA2):c.9027del (p.His3010fs) rs80359742
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9118-1G>C rs886040950
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618

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