ClinVar Miner

List of variants reported as likely pathogenic for DNA repair disease by Invitae

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 309
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_58386890)_(58393019_?)del
NC_000008.10:g.(?_90947800)_(90949313_?)del
NC_000008.10:g.(?_90947804)_(90949309_?)del
NC_000008.10:g.(?_90947804)_(90993757_?)del
NC_000008.10:g.(?_90955471)_(90983528_?)dup
NC_000008.10:g.(?_90990438)_(90993131_?)del
NC_000008.10:g.(?_90990442)_(90993127_?)del
NC_000011.9:g.(?_108106391)_(108106567_?)del
NC_000011.9:g.(?_108114670)_(108225611_?)dup
NC_000011.9:g.(?_108114674)_(108225607_?)dup
NC_000011.9:g.(?_108137888)_(108225611_?)dup
NC_000011.9:g.(?_108163346)_(108170612_?)del
NC_000011.9:g.(?_108198362)_(108202294_?)del
NC_000011.9:g.(?_108198372)_(108202284_?)del
NC_000011.9:g.(?_108205686)_(108225611_?)del
NC_000011.9:g.(?_108205690)_(108225607_?)del
NC_000011.9:g.(?_108206566)_(108206694_?)del
NC_000011.9:g.(?_94194092)_(94212937_?)dup
NC_000011.9:g.(?_94209445)_(94212937_?)del
NC_000015.9:g.(?_91337387)_(91341577_?)del
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89831292)_(89846371_?)del
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000017.10:g.(?_56787210)_(56787361_?)del
NC_000017.10:g.(?_56787214)_(56787357_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_56811473)_(56811589_?)del
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_59938802)_(59938906_?)del
NC_000023.10:g.(?_14875974)_(14877466_?)del
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-3_1072del
NM_000051.3(ATM):c.1092_1235+363del
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1236-2del rs1565381646
NM_000051.3(ATM):c.1608-1G>A rs1565385010
NM_000051.3(ATM):c.1608-1G>C rs1565385010
NM_000051.3(ATM):c.1783_1802+91del rs1555072063
NM_000051.3(ATM):c.1803-2A>G rs1057517358
NM_000051.3(ATM):c.185+1G>A rs112805604
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.1899-1G>T
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2125-15_2128del rs1064792940
NM_000051.3(ATM):c.2125-1G>A rs1402299151
NM_000051.3(ATM):c.2125-2A>C rs1565394403
NM_000051.3(ATM):c.2250+1G>A rs1565395193
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2376+1G>T rs730881347
NM_000051.3(ATM):c.2466+2T>A rs878853495
NM_000051.3(ATM):c.2466+2T>G rs878853495
NM_000051.3(ATM):c.2467-1G>A rs1328985852
NM_000051.3(ATM):c.2467-2A>T rs1555082050
NM_000051.3(ATM):c.2467-?_8850+?dup6384
NM_000051.3(ATM):c.2838+1G>T rs1555083469
NM_000051.3(ATM):c.2839-2A>G rs1060501703
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2922-50_2940del rs1555084832
NM_000051.3(ATM):c.3077+1G>A rs192810283
NM_000051.3(ATM):c.3146_3153+2del
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3284+1G>C rs864622129
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+2T>G rs1555055358
NM_000051.3(ATM):c.3747-3_3751del rs1555093256
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4237-2A>G
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4611+1G>A rs1565461840
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4777-1G>A
NM_000051.3(ATM):c.4910-1G>T rs1060501706
NM_000051.3(ATM):c.4910-2A>G
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.497-1G>C
NM_000051.3(ATM):c.5006-1G>A
NM_000051.3(ATM):c.5129_5763-1060del
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5319+2T>C rs1555105842
NM_000051.3(ATM):c.5496+2T>G
NM_000051.3(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.5918+1G>A
NM_000051.3(ATM):c.6006+1G>C rs786202016
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6096-1G>C
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6198+2T>C rs1555113882
NM_000051.3(ATM):c.6199-2A>T rs1060501570
NM_000051.3(ATM):c.6199-2del rs1555114545
NM_000051.3(ATM):c.6348-1G>A rs1057517302
NM_000051.3(ATM):c.6348-2A>G rs864622367
NM_000051.3(ATM):c.6453-1G>A
NM_000051.3(ATM):c.6453-1G>C rs1555117071
NM_000051.3(ATM):c.6573-2A>G rs751168951
NM_000051.3(ATM):c.6573-9G>A
NM_000051.3(ATM):c.662+1G>A rs1060501690
NM_000051.3(ATM):c.6975+1G>T rs1565521129
NM_000051.3(ATM):c.6976-10_6989del rs587779859
NM_000051.3(ATM):c.6976-1G>A
NM_000051.3(ATM):c.6976-1G>T
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.72+2del rs1555053972
NM_000051.3(ATM):c.7308-2A>C rs1555122938
NM_000051.3(ATM):c.7570G>C (p.Ala2524Pro) rs769142993
NM_000051.3(ATM):c.7629+1G>A rs1565532703
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7788+1G>T rs1565534524
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7927+1G>C rs1555125532
NM_000051.3(ATM):c.7928-1G>A rs1555126163
NM_000051.3(ATM):c.7928-2A>T rs864622610
NM_000051.3(ATM):c.8010+1del rs876659350
NM_000051.3(ATM):c.8010+2T>C
NM_000051.3(ATM):c.8011-1G>T rs1555127017
NM_000051.3(ATM):c.8011-2A>C
NM_000051.3(ATM):c.8148_8151+2del rs1565541335
NM_000051.3(ATM):c.8189A>C (p.Gln2730Pro)
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8416_8418+5del
NM_000051.3(ATM):c.8418+1G>A rs766533795
NM_000051.3(ATM):c.8418+2T>C rs1060501713
NM_000051.3(ATM):c.8419-2A>G rs1555137917
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro) rs587782202
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8584+1G>A rs876658182
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.8671+1G>T rs1555139694
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.8786+2T>A rs1555142918
NM_000051.3(ATM):c.8988-1G>T
NM_000051.3(ATM):c.8988-2A>G rs786202087
NM_000051.3(ATM):c.901+1_901+26del
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9050_9051insTTCA (p.Lys3018fs) rs1555151854
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2824-2A>T rs745538883
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.960-1G>A
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.1900+1G>T
NM_000135.4(FANCA):c.2317-1G>T
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2852+2T>G
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3828+1G>C rs1432988639
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.426+2T>G
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.346-1G>T
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.687-1G>A
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu)
NM_001113378.1(FANCI):c.3924+1G>A rs864622739
NM_002485.4(NBN):c.1124+2T>G rs1554560352
NM_002485.4(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.4(NBN):c.1397+2T>A rs730881850
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.1845+2T>C
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.2070+2del rs1057517075
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2071-2A>C rs775397477
NM_002485.4(NBN):c.2119_2141del (p.Asp707fs) rs1554555782
NM_002485.4(NBN):c.2156dup (p.Glu720fs)
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2185-1G>A rs1057517262
NM_002485.4(NBN):c.2185-?_*(1_?)del
NM_002485.4(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.4(NBN):c.2226_2234+4del rs1563497529
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.585-1G>A rs1394578008
NM_002485.4(NBN):c.585-2A>G
NM_002485.4(NBN):c.702+1G>A rs1057517104
NM_002485.4(NBN):c.702+1G>C rs1057517104
NM_002485.4(NBN):c.896+2T>C
NM_002485.4(NBN):c.897-2A>G
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.995-1G>C rs1554560523
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_004629.1(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.1(FANCG):c.777+1G>A rs1060501862
NM_004629.1(FANCG):c.778-1G>A rs767518932
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005591.3(MRE11):c.1327-2A>G rs878854776
NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)
NM_018062.3(FANCL):c.1049_1050AG[1] (p.Ser351fs) rs750871999
NM_018062.3(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.3(FANCL):c.216+1G>T rs1205006300
NM_018062.3(FANCL):c.273+1G>A
NM_018062.3(FANCL):c.692-2A>G rs1558737575
NM_022725.3(FANCF):c.2T>G (p.Met1Arg) rs745495865
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1629-1G>T rs1060501757
NM_032043.2(BRIP1):c.1794+1G>C
NM_032043.2(BRIP1):c.1936-1G>C
NM_032043.2(BRIP1):c.1936-2A>G rs878855143
NM_032043.2(BRIP1):c.205+2T>G rs1060501763
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2097+1G>T
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2380-1G>A rs1567756032
NM_032043.2(BRIP1):c.2492+2dup rs587780240
NM_032043.2(BRIP1):c.2492_2492+5del
NM_032043.2(BRIP1):c.2493-1G>A rs786203451
NM_032043.2(BRIP1):c.2493-2A>G
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2576-2A>G rs869312763
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.3015dup (p.Asn1006Ter)
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.2(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000
NM_032043.2(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.2(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.2(BRIP1):c.3390_3393delCTAT rs778664039
NM_032043.2(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.508-2A>T rs876659707
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.628-1G>A
NM_032043.2(BRIP1):c.628-5_629del rs1555609402
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.2(BRIP1):c.93+1G>A rs587782047
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032043.2(BRIP1):c.93+2T>C
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_033084.5(FANCD2):c.491+1G>A
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1027-2A>G rs587780835
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter) rs1555605532
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs) rs1064792966
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
NM_058216.3(RAD51C):c.404+2T>C rs730881931
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571+2T>A rs1567789009
NM_058216.3(RAD51C):c.572-2A>G rs145310733
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2del rs876658652
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
Single allele

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