ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic for Malignant tumor of breast

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter) rs80359112 0.00010
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs) rs1555282969 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter) rs80358754 0.00001
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.6065C>G (p.Ser2022Ter) rs80358843 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs) rs1555283361
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1257del (p.Cys419fs) rs80359272
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter) rs587781799
NM_000059.4(BRCA2):c.1389del (p.Val464fs) rs397507584
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.1910-1G>A rs1566225769
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.246del (p.Glu83fs) rs397507630
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.4(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3119del (p.Thr1040fs) rs2137493409
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3215dup (p.Leu1072fs) rs2072475243
NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer) rs1555283160
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter) rs80358579
NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer) rs397507670
NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs) rs1555283251
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs) rs1555283262
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.4042del (p.Cys1348fs) rs886037800
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs) rs1064794708
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs) rs1593903166
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.517-2_631+1del rs2137451892
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs) rs80359483
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs) rs2137518942
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter) rs56253082
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs) rs80359537
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.4(BRCA2):c.610del (p.Ser205fs) rs80359560
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs) rs886040649
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.68-1G>T rs1060502376
NM_000059.4(BRCA2):c.68-2_316+1del rs2138703519
NM_000059.4(BRCA2):c.6808_6836del (p.Gly2270fs) rs2137530818
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter) rs56383036
NM_000059.4(BRCA2):c.7183del (p.His2395fs) rs397507900
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs) rs397507906
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer) rs80359651
NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs) rs397507918
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter) rs80358971
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs) rs1555286298
NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter) rs1210418849
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) rs483353072
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter) rs397507941
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs) rs397507410
NM_000059.4(BRCA2):c.8732del (p.Ala2911fs) rs2137613348
NM_000059.4(BRCA2):c.8754+1G>A rs397508006
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8827del (p.Gln2943fs) rs2137619587
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.8954-1G>A rs1555288435
NM_000059.4(BRCA2):c.8954-2A>C rs1135401928
NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter) rs1555288462
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9118-1G>C rs886040950
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.927del (p.Leu310fs) rs886040828
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter) rs80359211
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs) rs876659435
NM_000059.4(BRCA2):c.9431del (p.Ser3144fs) rs397508051
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049
NM_000059.4(BRCA2):c.994del (p.Ile332fs) rs80359777

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