ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs) rs1162394508 0.00001
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 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.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9648+1G>C rs730881573 0.00001
NM_000059.3(BRCA2):c.8332_8487del
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.101_102insT (p.Glu34fs)
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.1208dup (p.Asn404fs) rs2137468789
NM_000059.4(BRCA2):c.1211dup (p.Asn404fs) rs1555281775
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.1561dup (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.17_18del (p.Lys6fs) rs80359298
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2167dup (p.Ser723fs) rs2072451752
NM_000059.4(BRCA2):c.2361_2362dup (p.Gly788fs)
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.4(BRCA2):c.2507del (p.Pro836fs)
NM_000059.4(BRCA2):c.2543del (p.Lys848fs) rs2072459783
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter) rs1060502414
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter) rs979372317
NM_000059.4(BRCA2):c.2722G>T (p.Glu908Ter) rs2137489223
NM_000059.4(BRCA2):c.2801del (p.Gly934fs) rs2137490061
NM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter) rs1555282911
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys) rs80358547
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3070_3071del (p.Asn1023_Ile1024insTer)
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.317-2A>G rs1477341630
NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs) rs1555283079
NM_000059.4(BRCA2):c.3187_3188del (p.Gln1063fs) rs2137494105
NM_000059.4(BRCA2):c.3201del (p.Val1068fs) rs864622672
NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs) rs1555283099
NM_000059.4(BRCA2):c.3262_3263del (p.Pro1088fs) rs80359379
NM_000059.4(BRCA2):c.3339del (p.Glu1113fs) rs2137495606
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter) rs1555283206
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter) rs786203359
NM_000059.4(BRCA2):c.3700_3701del (p.Leu1234fs)
NM_000059.4(BRCA2):c.3723del (p.Phe1241fs) rs886040491
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs) rs730881606
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs) rs80359430
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter) rs1555280869
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter) rs886038101
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.4322_4323del (p.Glu1441fs) rs1593902043
NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs) rs1566230089
NM_000059.4(BRCA2):c.4376del (p.Asn1459fs) rs1555283752
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs) rs786203492
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs) rs397507725
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4593_4594del (p.Lys1531fs) rs2072508654
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs) rs869320793
NM_000059.4(BRCA2):c.4641del (p.Asp1547fs) rs1593902988
NM_000059.4(BRCA2):c.4647del (p.Glu1550fs) rs1593902999
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter) rs878853585
NM_000059.4(BRCA2):c.4749del (p.Ile1583fs) rs1555283928
NM_000059.4(BRCA2):c.475+4del rs276174848
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.4858_4861del (p.Leu1620fs) rs1593903595
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.4981_4982insGAAT (p.Tyr1661Ter)
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs) rs1593904263
NM_000059.4(BRCA2):c.5087del (p.Gly1696fs)
NM_000059.4(BRCA2):c.5103_5106del (p.Pro1702fs)
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter) rs1064795652
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.5206_5207del (p.Gln1736fs)
NM_000059.4(BRCA2):c.5215del (p.Tyr1739fs) rs398122796
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs) rs398122530
NM_000059.4(BRCA2):c.5386_5393del (p.Asp1796fs)
NM_000059.4(BRCA2):c.568_575del (p.Pro190fs) rs886040605
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.4(BRCA2):c.5844_5856del (p.Cys1948fs) rs2072539817
NM_000059.4(BRCA2):c.5880_5887del (p.Cys1960fs) rs1593906797
NM_000059.4(BRCA2):c.5963dup (p.Ser1989fs) rs2072542766
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.631+4A>G rs397507841
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs) rs1555284655
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs) rs1555284710
NM_000059.4(BRCA2):c.6592G>T (p.Glu2198Ter) rs1555284766
NM_000059.4(BRCA2):c.67+2T>G rs81002885
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr) rs397507881
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.682-2A>C rs878853287
NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs) rs1555284862
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.4(BRCA2):c.6938-1G>C rs886040936
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter) rs886040696
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs) rs1566242661
NM_000059.4(BRCA2):c.7684T>G (p.Phe2562Val) rs80358995
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs) rs80359676
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7805+2T>A rs886040941
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs) rs397507940
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.4(BRCA2):c.794-2A>G rs1566222053
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs) rs1566244965
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976+1G>T rs81002873
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-2A>G rs276174899
NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs) rs1555286933
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) rs80359030
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr) rs80359040
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp) rs1057521184
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.831del (p.Asn277fs) rs1555281604
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.4(BRCA2):c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln) rs1064795286
NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
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.8562T>G (p.Tyr2854Ter) rs786201333
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8706del (p.Glu2903fs) rs2137613060
NM_000059.4(BRCA2):c.8724del (p.Lys2909fs) rs1555288172
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8755-2A>T rs1566252482
NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer) rs1593936493
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs) rs1593936980
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
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.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9064del (p.Arg3022fs)
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9117+1del rs869320801
NM_000059.4(BRCA2):c.9117_9117+11del rs1593937758
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9256+2T>C rs1555288591
NM_000059.4(BRCA2):c.9256+2T>G rs1555288591
NM_000059.4(BRCA2):c.9270_9288del (p.Tyr3092fs)
NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro) rs28897758
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs) rs886040831
NM_000059.4(BRCA2):c.9498del (p.Glu3167fs) rs397508055
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs) rs80359769
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs) rs2073041280
NM_000059.4(BRCA2):c.9588del (p.Asp3197fs) rs876661285
NM_000059.4(BRCA2):c.9591del (p.Cys3198fs) rs1555289787
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.9633dup (p.Gly3212fs) rs1555289805
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs) rs80359774
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter) rs2073049381
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9711del (p.Lys3238fs) rs1555289923
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs) rs886040851
NM_000059.4(BRCA2):c.9868del (p.Val3290fs) rs80359776

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