ClinVar Miner

List of variants in gene BRIP1 reported as likely benign for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP
NM_032043.2(BRIP1):c.*1263A>G rs73991940
NM_032043.2(BRIP1):c.*1374T>C rs59115933
NM_032043.2(BRIP1):c.*152G>T rs540229694
NM_032043.2(BRIP1):c.*158T>C rs1978111
NM_032043.2(BRIP1):c.*172G>C rs111898257
NM_032043.2(BRIP1):c.*1820C>T rs114037902
NM_032043.2(BRIP1):c.*1964T>C rs140267868
NM_032043.2(BRIP1):c.*2082_*2085del rs10601136
NM_032043.2(BRIP1):c.*2090G>C rs60657820
NM_032043.2(BRIP1):c.*2241T>C rs76889595
NM_032043.2(BRIP1):c.*2538G>A rs150080122
NM_032043.2(BRIP1):c.*280G>C rs189935192
NM_032043.2(BRIP1):c.*283del rs531656835
NM_032043.2(BRIP1):c.*3114del rs35235448
NM_032043.2(BRIP1):c.*3450T>C rs74859843
NM_032043.2(BRIP1):c.*3488A>T rs11079454
NM_032043.2(BRIP1):c.*3514T>G rs10744996
NM_032043.2(BRIP1):c.*4000T>C rs8077553
NM_032043.2(BRIP1):c.*483C>T rs7213430
NM_032043.2(BRIP1):c.*616A>G rs116292412
NM_032043.2(BRIP1):c.*729C>T rs137967725
NM_032043.2(BRIP1):c.-197C>A rs180948389
NM_032043.2(BRIP1):c.-205G>A rs2048718
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.1041A>G (p.Leu347=) rs1555607724
NM_032043.2(BRIP1):c.1050T>C (p.Cys350=) rs1555607717
NM_032043.2(BRIP1):c.1053A>G (p.Pro351=) rs544977115
NM_032043.2(BRIP1):c.1059C>T (p.Tyr353=) rs864622375
NM_032043.2(BRIP1):c.1071A>G (p.Glu357=) rs761017296
NM_032043.2(BRIP1):c.1089C>T (p.Asp363=) rs139701369
NM_032043.2(BRIP1):c.1140+10T>C rs1060504332
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.2(BRIP1):c.1176A>G (p.Leu392=) rs550092661
NM_032043.2(BRIP1):c.1188T>C (p.His396=) rs1555607189
NM_032043.2(BRIP1):c.1194C>T (p.Ile398=) rs757427498
NM_032043.2(BRIP1):c.1200C>T (p.Asp400=) rs1555607173
NM_032043.2(BRIP1):c.1207C>A (p.Arg403=) rs369631413
NM_032043.2(BRIP1):c.120A>G (p.Gln40=) rs878855136
NM_032043.2(BRIP1):c.1257G>A (p.Arg419=) rs148429663
NM_032043.2(BRIP1):c.1264C>T (p.Leu422=) rs768633507
NM_032043.2(BRIP1):c.1266A>T (p.Leu422=) rs1484320639
NM_032043.2(BRIP1):c.1287T>C (p.Asn429=) rs863224431
NM_032043.2(BRIP1):c.1296G>A (p.Lys432=) rs757400610
NM_032043.2(BRIP1):c.130T>C (p.Leu44=) rs758270108
NM_032043.2(BRIP1):c.1311C>T (p.Pro437=) rs1060504327
NM_032043.2(BRIP1):c.1332C>T (p.Ser444=) rs200581792
NM_032043.2(BRIP1):c.1340+7A>T rs755399646
NM_032043.2(BRIP1):c.1340+9A>T rs376487588
NM_032043.2(BRIP1):c.1341-8_1341-4delTATTT rs1555605965
NM_032043.2(BRIP1):c.1356C>T (p.Asn452=) rs730881640
NM_032043.2(BRIP1):c.1368T>C (p.Leu456=) rs878855138
NM_032043.2(BRIP1):c.1371A>G (p.Val457=) rs935612010
NM_032043.2(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.2(BRIP1):c.1413T>C (p.Asn471=) rs1555605904
NM_032043.2(BRIP1):c.1443T>C (p.Gly481=) rs775431508
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1485T>G (p.Ser495=) rs370658123
NM_032043.2(BRIP1):c.1524T>C (p.Tyr508=) rs1060504326
NM_032043.2(BRIP1):c.1566A>G (p.Ser522=) rs985465808
NM_032043.2(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) rs373709958
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1629-500G>A rs1057517645
NM_032043.2(BRIP1):c.1629-6A>G rs755767691
NM_032043.2(BRIP1):c.1644T>C (p.Tyr548=) rs372760869
NM_032043.2(BRIP1):c.1653G>A (p.Ala551=) rs750213758
NM_032043.2(BRIP1):c.1686T>C (p.Ile562=) rs1374464175
NM_032043.2(BRIP1):c.1695A>C (p.Ser565=) rs142572387
NM_032043.2(BRIP1):c.1707G>A (p.Gly569=) rs878855141
NM_032043.2(BRIP1):c.1728T>C (p.Asn576=) rs1555602531
NM_032043.2(BRIP1):c.1731G>A (p.Lys577=) rs587780829
NM_032043.2(BRIP1):c.1752T>G (p.Thr584=) rs778774207
NM_032043.2(BRIP1):c.1773T>C (p.Phe591=) rs1057523507
NM_032043.2(BRIP1):c.1791T>G (p.Ala597=) rs1060504323
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1797C>G (p.Ala599=) rs771672834
NM_032043.2(BRIP1):c.1806T>C (p.Asp602=) rs878855142
NM_032043.2(BRIP1):c.1872G>A (p.Ser624=) rs145504336
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1908G>A (p.Glu636=) rs1555602134
NM_032043.2(BRIP1):c.1935+11G>A rs79121306
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.1935+7T>C rs201024366
NM_032043.2(BRIP1):c.1936-4C>T rs587780552
NM_032043.2(BRIP1):c.1936-7A>G rs1427111542
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1971T>G (p.Gly657=) rs1555601157
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2085G>A (p.Leu695=) rs1555601008
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2097+8A>G rs730881642
NM_032043.2(BRIP1):c.2100A>G (p.Leu700=) rs766047812
NM_032043.2(BRIP1):c.2127C>T (p.Leu709=) rs1060504325
NM_032043.2(BRIP1):c.2130T>C (p.Ser710=) rs1555591497
NM_032043.2(BRIP1):c.2154G>A (p.Glu718=) rs1057523978
NM_032043.2(BRIP1):c.2155T>C (p.Leu719=) rs771122056
NM_032043.2(BRIP1):c.2169C>T (p.Val723=) rs749460936
NM_032043.2(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2238C>A (p.Ile746=) rs876660416
NM_032043.2(BRIP1):c.2238C>T (p.Ile746=) rs876660416
NM_032043.2(BRIP1):c.225C>T (p.Gly75=) rs186802750
NM_032043.2(BRIP1):c.2262A>T (p.Gly754=) rs1060504324
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2301G>A (p.Glu767=) rs369434185
NM_032043.2(BRIP1):c.2307G>A (p.Leu769=) rs1555590464
NM_032043.2(BRIP1):c.2310T>C (p.Asp770=) rs148752066
NM_032043.2(BRIP1):c.2322C>T (p.Asp774=) rs1057520434
NM_032043.2(BRIP1):c.2373T>C (p.Asp791=) rs876659615
NM_032043.2(BRIP1):c.2379+9T>C rs1555590278
NM_032043.2(BRIP1):c.2382T>G (p.Val794=) rs560088455
NM_032043.2(BRIP1):c.2409C>T (p.His803=) rs762039913
NM_032043.2(BRIP1):c.2412T>C (p.His804=) rs1555580913
NM_032043.2(BRIP1):c.2419T>C (p.Leu807=) rs786201708
NM_032043.2(BRIP1):c.2478C>T (p.Asn826=) rs774939280
NM_032043.2(BRIP1):c.2492+8G>C rs772953115
NM_032043.2(BRIP1):c.249A>G (p.Gln83=) rs45528833
NM_032043.2(BRIP1):c.2505C>T (p.His835=) rs775547651
NM_032043.2(BRIP1):c.2514T>C (p.Asp838=) rs1555574808
NM_032043.2(BRIP1):c.2556C>T (p.Asn852=) rs876658785
NM_032043.2(BRIP1):c.2562T>C (p.Ser854=) rs1555574734
NM_032043.2(BRIP1):c.2568T>C (p.Tyr856=) rs370175724
NM_032043.2(BRIP1):c.2575+10C>T rs1060504322
NM_032043.2(BRIP1):c.2576-17T>G rs1057517647
NM_032043.2(BRIP1):c.2576-7T>A rs759408257
NM_032043.2(BRIP1):c.2576-7T>C rs759408257
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.267A>G (p.Ala89=) rs764027029
NM_032043.2(BRIP1):c.267A>T (p.Ala89=) rs764027029
NM_032043.2(BRIP1):c.2739T>C (p.Ser913=) rs878855147
NM_032043.2(BRIP1):c.2748C>T (p.Tyr916=) rs555200296
NM_032043.2(BRIP1):c.2754C>T (p.Thr918=) rs878855148
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.276A>G (p.Ser92=) rs786202281
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2814A>G (p.Glu938=) rs1555573311
NM_032043.2(BRIP1):c.2820G>A (p.Lys940=) rs786201396
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.2829C>T (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.2868A>G (p.Ser956=) rs1060504321
NM_032043.2(BRIP1):c.2872C>T (p.Leu958=) rs1555573260
NM_032043.2(BRIP1):c.2874A>T (p.Leu958=) rs886041147
NM_032043.2(BRIP1):c.2883C>T (p.Ser961=) rs367728797
NM_032043.2(BRIP1):c.288A>G (p.Thr96=) rs1278121295
NM_032043.2(BRIP1):c.2893A>C (p.Arg965=) rs113697814
NM_032043.2(BRIP1):c.2906-8A>G rs1555573005
NM_032043.2(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.294T>C (p.Asn98=) rs1555617859
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.3042T>C (p.Gly1014=) rs188258913
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3069C>G (p.Leu1023=) rs61754142
NM_032043.2(BRIP1):c.3069C>T (p.Leu1023=) rs61754142
NM_032043.2(BRIP1):c.3075A>G (p.Ser1025=) rs1060504319
NM_032043.2(BRIP1):c.3075A>T (p.Ser1025=) rs1060504319
NM_032043.2(BRIP1):c.3079G>A (p.Glu1027Lys) rs371185409
NM_032043.2(BRIP1):c.3084T>C (p.Asn1028=) rs1424179519
NM_032043.2(BRIP1):c.3087T>C (p.Ser1029=) rs1555572848
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.3117G>A (p.Glu1039=) rs769310105
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3139T>C (p.Leu1047=) rs1060504333
NM_032043.2(BRIP1):c.3165C>T (p.Ser1055=) rs1447544706
NM_032043.2(BRIP1):c.3174G>C (p.Leu1058=) rs1555572806
NM_032043.2(BRIP1):c.317G>A (p.Arg106His) rs143615668
NM_032043.2(BRIP1):c.3183C>T (p.Asn1061=) rs1555572792
NM_032043.2(BRIP1):c.3189G>A (p.Ser1063=) rs878855152
NM_032043.2(BRIP1):c.3225A>T (p.Ser1075=) rs1291039468
NM_032043.2(BRIP1):c.3234G>A (p.Lys1078=) rs570238270
NM_032043.2(BRIP1):c.3243C>T (p.Ala1081=) rs754003636
NM_032043.2(BRIP1):c.3267T>C (p.Ser1089=) rs876658543
NM_032043.2(BRIP1):c.3276G>A (p.Pro1092=) rs375911315
NM_032043.2(BRIP1):c.3279C>G (p.Leu1093=) rs1555572722
NM_032043.2(BRIP1):c.3285T>C (p.Ser1095=) rs774105218
NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) rs369843642
NM_032043.2(BRIP1):c.3354T>C (p.Asn1118=) rs757427210
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.3472T>C (p.Leu1158=) rs1060504330
NM_032043.2(BRIP1):c.3489T>C (p.Asp1163=) rs144245485
NM_032043.2(BRIP1):c.3504A>G (p.Lys1168=) rs1259866317
NM_032043.2(BRIP1):c.3543A>G (p.Ser1181=) rs1060504328
NM_032043.2(BRIP1):c.3546C>T (p.Ala1182=) rs755440956
NM_032043.2(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
NM_032043.2(BRIP1):c.3567T>C (p.Asp1189=) rs764848326
NM_032043.2(BRIP1):c.3579A>G (p.Thr1193=) rs1060504331
NM_032043.2(BRIP1):c.357T>C (p.Asn119=) rs786202477
NM_032043.2(BRIP1):c.363T>A (p.Thr121=) rs876660306
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.3717C>T (p.Ser1239=) rs758809865
NM_032043.2(BRIP1):c.3741T>A (p.Gly1247=) rs1555572413
NM_032043.2(BRIP1):c.380-24dup rs545021924
NM_032043.2(BRIP1):c.380-6T>C rs780921390
NM_032043.2(BRIP1):c.380-7A>G rs748143260
NM_032043.2(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.2(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.412T>C (p.Leu138=) rs786201292
NM_032043.2(BRIP1):c.420T>C (p.Ala140=) rs1555616190
NM_032043.2(BRIP1):c.426A>G (p.Lys142=) rs768008017
NM_032043.2(BRIP1):c.432A>T (p.Ala144=) rs1342776835
NM_032043.2(BRIP1):c.462T>C (p.Phe154=) rs1555616156
NM_032043.2(BRIP1):c.484C>A (p.Arg162=) rs747604569
NM_032043.2(BRIP1):c.507+9_507+10delAG rs747185394
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.543C>T (p.His181=) rs1285947952
NM_032043.2(BRIP1):c.549G>A (p.Leu183=) rs1060504335
NM_032043.2(BRIP1):c.570A>G (p.Gly190=) rs1368897810
NM_032043.2(BRIP1):c.576T>C (p.Thr192=) rs781282996
NM_032043.2(BRIP1):c.57T>C (p.Tyr19=) rs876659588
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) rs550707862
NM_032043.2(BRIP1):c.588C>T (p.Asn196=) rs758851721
NM_032043.2(BRIP1):c.595C>T (p.Leu199=) rs144969738
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.618G>A (p.Ser206=) rs367614726
NM_032043.2(BRIP1):c.627+7A>G rs1060504334
NM_032043.2(BRIP1):c.628-10T>A rs375646029
NM_032043.2(BRIP1):c.630C>T (p.Pro210=) rs864622510
NM_032043.2(BRIP1):c.672A>C (p.Gly224=) rs752356873
NM_032043.2(BRIP1):c.672A>G (p.Gly224=) rs752356873
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.690G>A (p.Ser230=) rs751460179
NM_032043.2(BRIP1):c.696C>T (p.Thr232=) rs772957320
NM_032043.2(BRIP1):c.69G>A (p.Pro23=) rs45458996
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.732C>A (p.Pro244=) rs786202300
NM_032043.2(BRIP1):c.750A>G (p.Thr250=) rs1057522393
NM_032043.2(BRIP1):c.786G>A (p.Glu262=) rs876658312
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.795G>A (p.Arg265=) rs61754143
NM_032043.2(BRIP1):c.816A>C (p.Pro272=) rs765027420
NM_032043.2(BRIP1):c.843T>C (p.His281=) rs1555609187
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.867C>T (p.Val289=) rs147739458
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.918+7A>G rs1060504329
NM_032043.2(BRIP1):c.919-10T>G rs748497834
NM_032043.2(BRIP1):c.919-8G>A rs777079928
NM_032043.2(BRIP1):c.919-8G>T rs777079928
NM_032043.2(BRIP1):c.921A>G (p.Gly307=) rs786202337
NM_032043.2(BRIP1):c.924A>G (p.Lys308=) rs374974885
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.2(BRIP1):c.969C>T (p.His323=) rs1555607775
NM_032043.2(BRIP1):c.972A>T (p.Thr324=) rs779627397
NM_032043.2(BRIP1):c.978G>A (p.Gln326=) rs1555607764
NM_032043.2(BRIP1):c.984C>T (p.Phe328=) rs745379285
NM_032043.2(BRIP1):c.990G>A (p.Gly330=) rs1060504320

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