ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic for Familial cancer of breast

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Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758 0.00005
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00002
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.681+1G>A rs398122565 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.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9501+1G>A rs397508058 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000059.4(BRCA2):c.-39-1G>A rs1060499566
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter) rs2072403180
NM_000059.4(BRCA2):c.1072del (p.Val358fs) rs2137467384
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter) rs886040353
NM_000059.4(BRCA2):c.1316_1317dup (p.Leu440fs) rs886040359
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.1337dup (p.Leu446fs) rs2548520076
NM_000059.4(BRCA2):c.137del (p.Pro46fs) rs2072285588
NM_000059.4(BRCA2):c.1404del (p.Asp469fs) rs2137471070
NM_000059.4(BRCA2):c.1571del (p.Met524fs) rs2548520544
NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter) rs80358455
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs) rs1566224293
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1864_1865delinsTA (p.Ala622Ter) rs2072424360
NM_000059.4(BRCA2):c.1909+2T>A rs876658577
NM_000059.4(BRCA2):c.1910-1G>A rs1566225769
NM_000059.4(BRCA2):c.1910-2A>C rs1228762581
NM_000059.4(BRCA2):c.1921del (p.Ser641fs) rs2548522770
NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs) rs2548511315
NM_000059.4(BRCA2):c.1943del (p.Ser648fs) rs876658660
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter) rs879255439
NM_000059.4(BRCA2):c.2033_2036del (p.Asn678fs) rs2548523025
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs) rs2548523045
NM_000059.4(BRCA2):c.2099del (p.Leu700fs) rs2548523176
NM_000059.4(BRCA2):c.2151_2152del (p.Cys717_Glu718delinsTer) rs878853560
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.4(BRCA2):c.2272del (p.Ser758fs) rs886040420
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs) rs1593896605
NM_000059.4(BRCA2):c.2390del (p.Lys797fs) rs1566226628
NM_000059.4(BRCA2):c.2515dup (p.Tyr839fs) rs2548524174
NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu) rs587782582
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs) rs876658928
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.4(BRCA2):c.2801del (p.Gly934fs) rs2137490061
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs) rs397507645
NM_000059.4(BRCA2):c.2872del (p.Ser958fs) rs2548524795
NM_000059.4(BRCA2):c.2973del (p.Asn991fs) rs2548524966
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter) rs864622609
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter) rs397507305
NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs) rs2548513972
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs) rs2548525800
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs) rs869312759
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer) rs1555283373
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.4(BRCA2):c.3748del (p.Glu1250fs) rs2548526797
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs) rs1555283478
NM_000059.4(BRCA2):c.4068_4086dup (p.Asn1363delinsAlaIleTyrTer) rs2548527565
NM_000059.4(BRCA2):c.4117dup (p.Met1373fs) rs1555283571
NM_000059.4(BRCA2):c.4135C>T (p.Gln1379Ter) rs2072497088
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs) rs1566229958
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs) rs1566230041
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter) rs876659758
NM_000059.4(BRCA2):c.4342_4343del (p.Asn1448fs) rs2548528160
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs) rs1555283752
NM_000059.4(BRCA2):c.4417_4418del (p.Asn1473fs) rs1593902312
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs) rs397507334
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs) rs869320793
NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter) rs864622546
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu) rs80358701
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.4(BRCA2):c.4867C>T (p.Gln1623Ter) rs2137511115
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.4979del (p.Pro1660fs) rs2548529726
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs) rs1593904263
NM_000059.4(BRCA2):c.5061del (p.Glu1688fs) rs2137513583
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter) rs938190132
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs) rs886039318
NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter) rs2072521352
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.5219T>G (p.Leu1740Ter) rs1593904834
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter) rs1555284120
NM_000059.4(BRCA2):c.522del (p.Gln175fs) rs1060502465
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer) rs2548530402
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter) rs786203853
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs) rs2548531352
NM_000059.4(BRCA2):c.5763del (p.Phe1921fs) rs80359534
NM_000059.4(BRCA2):c.5881del (p.Ser1961fs) rs2137521963
NM_000059.4(BRCA2):c.595_598del (p.Ala199fs) rs886040622
NM_000059.4(BRCA2):c.5991_5995del (p.Arg1997fs) rs1555284490
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs) rs2137523279
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter) rs1555284605
NM_000059.4(BRCA2):c.6259del (p.Arg2087fs) rs2548532887
NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs) rs786203430
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs) rs431825342
NM_000059.4(BRCA2):c.6417_6418insT (p.Gly2140fs) rs2548533261
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs) rs80359587
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs) rs876660421
NM_000059.4(BRCA2):c.6528_6535dup rs1555284738
NM_000059.4(BRCA2):c.6567_6574del (p.Val2190fs) rs2548533616
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter) rs2137529502
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs) rs1555284790
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs) rs1555284811
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs) rs1566235284
NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs) rs786204279
NM_000059.4(BRCA2):c.722del (p.Lys241fs) rs2137461470
NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs) rs1566241033
NM_000059.4(BRCA2):c.7297C>T (p.Gln2433Ter) rs2137557757
NM_000059.4(BRCA2):c.7363dup (p.His2455fs) rs2548540626
NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter) rs2137561690
NM_000059.4(BRCA2):c.7525_7526delinsGACT (p.Ser2509fs) rs2548541468
NM_000059.4(BRCA2):c.7531dup (p.Tyr2511fs) rs2548541493
NM_000059.4(BRCA2):c.7578_7579del (p.Val2527fs) rs2072698959
NM_000059.4(BRCA2):c.7659del (p.Asn2553fs) rs2548542490
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs) rs2072386817
NM_000059.4(BRCA2):c.7663A>T (p.Lys2555Ter) rs1566242721
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter) rs1593920920
NM_000059.4(BRCA2):c.7806-2A>T rs81002836
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs) rs2137577594
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.8074del (p.Asp2692fs) rs2548546346
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs) rs2137581286
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8181del (p.Val2728fs) rs2548546675
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs) rs2548549956
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8507_8508dup (p.Gly2837fs) rs2137599900
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8650del (p.Tyr2884fs) rs2072874502
NM_000059.4(BRCA2):c.8690del (p.Ala2897fs) rs2548553303
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser) rs11571769
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs) rs1593936840
NM_000059.4(BRCA2):c.8917del (p.Arg2973fs) rs2548555258
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter) rs2072903033
NM_000059.4(BRCA2):c.8954-15T>G rs886040948
NM_000059.4(BRCA2):c.8954-1G>A rs1555288435
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs) rs1555288449
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly) rs431825373
NM_000059.4(BRCA2):c.906dup (p.Ser303fs) rs397508033
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9113dup (p.Pro3039fs) rs2072911261
NM_000059.4(BRCA2):c.9117+1_9117+2delinsTC rs1566253399
NM_000059.4(BRCA2):c.9221dup (p.Ile3075fs) rs2548556239
NM_000059.4(BRCA2):c.9252_9253del (p.Lys3084fs) rs80359752
NM_000059.4(BRCA2):c.9258_9262del (p.Leu3087fs) rs2548561932
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs) rs1405341259
NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs) rs2548562367
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer) rs2548519165
NM_000059.4(BRCA2):c.9502-1G>C rs1566260055
NM_000059.4(BRCA2):c.9569del (p.Lys3190fs) rs2548563732
NM_000059.4(BRCA2):c.9581dup (p.Thr3195fs) rs80359771
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs) rs2073041280
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs) rs755175776
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter) rs746413844
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs) rs1593201815

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