ClinVar Miner

List of variants in gene BRIP1 studied for Fanconi anemia, complementation group J

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Gene type:
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Total variants: 139
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HGVS dbSNP
NM_032043.2(BRIP1):c.-22C>A
NM_032043.2(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.2(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.2(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1066C>G (p.Arg356Gly)
NM_032043.2(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.2(BRIP1):c.1131A>G (p.Ile377Met)
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1141-94G>T rs114901675
NM_032043.2(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816
NM_032043.2(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.2(BRIP1):c.1341-3C>G rs864622597
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1629-500G>A rs1057517645
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
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+5G>A rs1209289625
NM_032043.2(BRIP1):c.1936-2A>C
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170
NM_032043.2(BRIP1):c.1A>G (p.Met1Val) rs764585550
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.206-21T>C rs2048717
NM_032043.2(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
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.2257+19A>C rs77851913
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2364T>A (p.Asn788Lys) rs587783045
NM_032043.2(BRIP1):c.2379+5G>C rs1567779316
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2441G>A (p.Arg814His) rs45468199
NM_032043.2(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2564G>A (p.Arg855His) rs200894063
NM_032043.2(BRIP1):c.2576-17T>G rs1057517647
NM_032043.2(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2662C>T (p.His888Tyr) rs757668121
NM_032043.2(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2800T>G (p.Phe934Val) rs863224801
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.290_293delACAA rs763009188
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417
NM_032043.2(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.2(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.2(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.2(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248
NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) rs369843642
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.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.2(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.2(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.2(BRIP1):c.380-24dup rs545021924
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.588C>G (p.Asn196Lys)
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.629C>A (p.Pro210His) rs140097800
NM_032043.2(BRIP1):c.655T>C (p.Cys219Arg) rs730881630
NM_032043.2(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) rs45459799
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.2(BRIP1):c.991A>T (p.Met331Leu) rs1380876424

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