ClinVar Miner

List of variants reported as likely pathogenic for Breast-ovarian cancer, familial, susceptibility to, 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His) rs387907575 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter) rs397508009 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
NC_000013.10:g.(32944695_32945092)_(32945238_32950806)dup
NC_000013.10:g.32953528_32953529insAlu
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs) rs879255300
NM_000059.4(BRCA2):c.-39-1delinsAA
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1062dup (p.Val355fs) rs1555281716
NM_000059.4(BRCA2):c.1085_1086insCA (p.Thr363fs)
NM_000059.4(BRCA2):c.1125del (p.Phe376fs)
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1363_1369del (p.Glu456fs)
NM_000059.4(BRCA2):c.1397dup (p.Asn466fs)
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter) rs1566223700
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs) rs80359293
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter) rs1555282048
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.4(BRCA2):c.1908del (p.Gly637fs)
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.1910-2A>T rs1228762581
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter)
NM_000059.4(BRCA2):c.2167_2168del (p.Ser723fs) rs1593896252
NM_000059.4(BRCA2):c.2169_2170insT (p.Lys724Ter) rs1593896259
NM_000059.4(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.4(BRCA2):c.2534_2540delinsTTTAT (p.Pro845fs)
NM_000059.4(BRCA2):c.2592del (p.Glu865fs) rs2137487979
NM_000059.4(BRCA2):c.2676_2677del (p.Phe892fs) rs2137488835
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter) rs979372317
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.2980del (p.Ala994fs) rs2137491867
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs) rs397507300
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs) rs1057517566
NM_000059.4(BRCA2):c.308dup (p.Leu103fs) rs1057517572
NM_000059.4(BRCA2):c.316+5_316+8del
NM_000059.4(BRCA2):c.316+797_476-24del
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.331_347delinsC (p.Asn111fs)
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3767del (p.His1256fs) rs1555283393
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs) rs886038094
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter) rs1555283397
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs) rs397507686
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) rs80359406
NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.4117_4127delinsT (p.Phe1372_Met1373insTer)
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4350dup (p.Asp1451Ter)
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.4454_4455del (p.Ile1485fs) rs2137506518
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter) rs1057517636
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs) rs2072507154
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs) rs1555283876
NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter) rs1593886887
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs) rs397507740
NM_000059.4(BRCA2):c.4738dup (p.Cys1580fs)
NM_000059.4(BRCA2):c.475+1del
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter) rs2072513173
NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer) rs1593904052
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter) rs1555284111
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter) rs1555284120
NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter) rs1566232050
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter) rs1555284139
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs) rs1057517595
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs) rs886040598
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs) rs397507357
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs) rs1555284402
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter) rs1566233278
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter) rs1555284445
NM_000059.4(BRCA2):c.5908_5909del (p.Ser1970fs)
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)
NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs) rs1555284538
NM_000059.4(BRCA2):c.6135_6139del (p.Phe2045fs)
NM_000059.4(BRCA2):c.6222_6223del (p.His2074fs)
NM_000059.4(BRCA2):c.6290_6291insTA (p.Arg2099fs) rs1566234270
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.631+2T>A rs81002899
NM_000059.4(BRCA2):c.631+2T>C rs81002899
NM_000059.4(BRCA2):c.631+3A>G rs397507840
NM_000059.4(BRCA2):c.631+4A>G rs397507841
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.67+57_316+123delinsCAC
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs) rs1555284811
NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs) rs2137530365
NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn) rs397507881
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.68-352_317-1637del
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.683del (p.Asn228fs) rs1566221288
NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)
NM_000059.4(BRCA2):c.6842-2A>G rs1555285132
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs) rs886040932
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7007+1G>T rs397507891
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer) rs80359637
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs) rs1555286052
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.4(BRCA2):c.7300_7301del (p.Lys2434fs)
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.738del (p.Phe246fs) rs1566221413
NM_000059.4(BRCA2):c.7402dup (p.Val2468fs)
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.764dup (p.Asn255fs) rs1555281474
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs) rs80359670
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.793+1G>C rs81002846
NM_000059.4(BRCA2):c.793+2T>G rs886040942
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs) rs863224828
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.4(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8188G>A (p.Ala2730Thr) rs80359066
NM_000059.4(BRCA2):c.8218_8222del (p.Leu2740fs) rs1566245731
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8265_8275del (p.Ala2756fs)
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8387del (p.Pro2796fs)
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr) rs431825366
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8488-2A>C rs773272765
NM_000059.4(BRCA2):c.8533dup (p.Arg2845fs) rs397507990
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8632+1G>T rs397507997
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8633-1G>C
NM_000059.4(BRCA2):c.8633-1G>T
NM_000059.4(BRCA2):c.8715T>A (p.Tyr2905Ter) rs45555831
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8755-2A>C rs1566252482
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs) rs2072898210
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.4(BRCA2):c.8953+2T>C rs886040947
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9117+1del rs869320801
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9222_9223insTT (p.Ile3075fs) rs2137625568
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.4(BRCA2):c.9256+1G>A rs81002883
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.4(BRCA2):c.93_97del (p.Trp31_Glu33delinsTer) rs2138703748
NM_000059.4(BRCA2):c.9477del (p.Phe3159fs)
NM_000059.4(BRCA2):c.9648+1G>A rs730881573
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter) rs1593201677
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9730_9731del (p.Val3244fs)
NM_000059.4(BRCA2):c.9759T>A (p.Cys3253Ter)
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_007294.4(BRCA1):c.4185+1G>T rs80358076

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