ClinVar Miner

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

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Total variants: 105
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HGVS dbSNP
NM_032043.2(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615
NM_032043.2(BRIP1):c.1126_1127delCA (p.Gln376Asnfs) rs587780224
NM_032043.2(BRIP1):c.1171A>G (p.Ile391Val) rs863224798
NM_032043.2(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.1321G>A (p.Val441Met) rs1060501782
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1425_1429delAACTT (p.Leu475Phefs) rs768736851
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1444A>G (p.Ile482Val) rs142744352
NM_032043.2(BRIP1):c.1474-13_1475del15 rs1555603635
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1510dupA (p.Ile504Asnfs) rs775735278
NM_032043.2(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.2(BRIP1):c.1571_1573delAAA (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.2(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299
NM_032043.2(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789
NM_032043.2(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666
NM_032043.2(BRIP1):c.1684A>G (p.Ile562Val) rs45533636
NM_032043.2(BRIP1):c.1702_1703delAA (p.Asn568Trpfs) rs1057519365
NM_032043.2(BRIP1):c.1702_1704delAAT (p.Asn568del) rs1555602554
NM_032043.2(BRIP1):c.1759C>G (p.His587Asp) rs876660519
NM_032043.2(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1831G>A (p.Val611Ile) rs777741543
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619Thrfs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1899C>G (p.Ile633Met) rs28997572
NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155
NM_032043.2(BRIP1):c.2114_2118delAAGAA (p.Lys705Thrfs) rs864622611
NM_032043.2(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235
NM_032043.2(BRIP1):c.2255_2256delAA (p.Lys752Argfs) rs730881649
NM_032043.2(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572
NM_032043.2(BRIP1):c.2273dupT (p.Ala759Serfs) rs587780236
NM_032043.2(BRIP1):c.2285G>A (p.Arg762His) rs200960251
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2341dup (p.Thr781Asnfs) rs1555590388
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.2(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.2(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239
NM_032043.2(BRIP1):c.2492+5G>A rs763222019
NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) rs374334794
NM_032043.2(BRIP1):c.254C>T (p.Ser85Leu) rs587781830
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.2567A>G (p.Tyr856Cys) rs781556845
NM_032043.2(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) rs4988356
NM_032043.2(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2992_2995delAAGA (p.Lys998Glufs) rs786203717
NM_032043.2(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.2(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706
NM_032043.2(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272
NM_032043.2(BRIP1):c.3104G>A (p.Arg1035His) rs367816363
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.317G>A (p.Arg106His) rs143615668
NM_032043.2(BRIP1):c.3196delT (p.Ser1066Hisfs) rs730881645
NM_032043.2(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474
NM_032043.2(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402
NM_032043.2(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666
NM_032043.2(BRIP1):c.3240dupT (p.Ala1081Cysfs) rs779741278
NM_032043.2(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830
NM_032043.2(BRIP1):c.3390_3393delCTAT (p.Tyr1131Leufs) rs778664039
NM_032043.2(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340
NM_032043.2(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396
NM_032043.2(BRIP1):c.394A>T (p.Thr132Ser) rs730881623
NM_032043.2(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.2(BRIP1):c.413T>C (p.Leu138Ser) rs587780251
NM_032043.2(BRIP1):c.477_481delAAGAA (p.Lys159Asnfs) rs1555616143
NM_032043.2(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375
NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu) rs565458815
NM_032043.2(BRIP1):c.628C>T (p.Pro210Ser) rs150313156
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776
NM_032043.2(BRIP1):c.78dup (p.Ala27Cysfs) rs1555618709
NM_032043.2(BRIP1):c.797C>T (p.Thr266Met) rs550031006
NM_032043.2(BRIP1):c.823A>G (p.Ile275Val) rs587781425
NM_032043.2(BRIP1):c.840delT (p.His281Ilefs) rs1555609191
NM_032043.2(BRIP1):c.890delA (p.Lys297Serfs) rs786202610
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.2(BRIP1):c.932_935delATTT (p.Tyr311Phefs) rs1555607792

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