ClinVar Miner

List of variants in gene BRIP1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 110
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HGVS dbSNP
NM_032043.2(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.2(BRIP1):c.1005G>A (p.Trp335Ter) rs786201808
NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633
NM_032043.2(BRIP1):c.1082del (p.Asp361fs) rs587781639
NM_032043.2(BRIP1):c.1098_1102del (p.Cys367fs) rs876660219
NM_032043.2(BRIP1):c.1114_1115delinsA rs587783377
NM_032043.2(BRIP1):c.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.2(BRIP1):c.1126_1127delCA rs587780224
NM_032043.2(BRIP1):c.1204_1205insTGTG rs730881647
NM_032043.2(BRIP1):c.1230_1251del (p.Thr411fs) rs786202415
NM_032043.2(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.2(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1294A>T (p.Lys432Ter) rs1555607070
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.2(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.1461del (p.Ile489fs) rs1555605866
NM_032043.2(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1645_1649dup (p.Ala551fs) rs1555602638
NM_032043.2(BRIP1):c.1660C>T (p.Gln554Ter) rs777217004
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567_Asn568insIleSerAsnTer) rs878855140
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.2(BRIP1):c.1890del (p.Phe631fs) rs1555602154
NM_032043.2(BRIP1):c.1936delG rs1567809140
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.1940G>A (p.Trp647Ter) rs1555601203
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs) rs1555618375
NM_032043.2(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.2(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.2(BRIP1):c.2015delinsCC (p.Phe672fs) rs1555601094
NM_032043.2(BRIP1):c.2030del (p.Gly677fs) rs1555601064
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2038_2042del (p.Leu680fs) rs1400202829
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533
NM_032043.2(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2142G>A (p.Trp714Ter) rs1567781516
NM_032043.2(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.2(BRIP1):c.2237_2240del (p.Ile746fs) rs587782726
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2251_2254delGAGA rs1555591308
NM_032043.2(BRIP1):c.2253_2254delGA
NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2281del (p.Cys761fs) rs1555590521
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
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.2448G>A (p.Trp816Ter) rs1064795352
NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.2(BRIP1):c.24T>A (p.Tyr8Ter) rs752411477
NM_032043.2(BRIP1):c.2518_2519del (p.Gly840fs) rs1555574796
NM_032043.2(BRIP1):c.2519dup (p.Ala841fs) rs1555574796
NM_032043.2(BRIP1):c.2524_2525delCT rs1555574788
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2595del (p.Gln866fs) rs587781974
NM_032043.2(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.2(BRIP1):c.2732dup (p.Thr912fs) rs752780954
NM_032043.2(BRIP1):c.2737del (p.Ser913fs) rs1555573386
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2833del (p.Glu945fs) rs876659212
NM_032043.2(BRIP1):c.290_293delACAA rs763009188
NM_032043.2(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.2990_2993dupCAAA rs771028677
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.2(BRIP1):c.308del (p.Gly103fs) rs1555617834
NM_032043.2(BRIP1):c.314C>G (p.Ser105Ter) rs1555617829
NM_032043.2(BRIP1):c.349G>T (p.Glu117Ter) rs786203890
NM_032043.2(BRIP1):c.386del (p.Pro129fs) rs876660080
NM_032043.2(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.2(BRIP1):c.396_400del (p.Thr133fs) rs1555616206
NM_032043.2(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.2(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.2(BRIP1):c.477_481delAAGAA rs1555616143
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.535G>T (p.Glu179Ter) rs1555615784
NM_032043.2(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.2(BRIP1):c.584_585del (p.Leu195fs) rs1555615743
NM_032043.2(BRIP1):c.633del (p.Gly212fs) rs779466229
NM_032043.2(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.2(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.2(BRIP1):c.708dup (p.His237fs) rs1555609298
NM_032043.2(BRIP1):c.747del (p.Thr250fs) rs1567838174
NM_032043.2(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.2(BRIP1):c.804T>G (p.Tyr268Ter) rs587782514
NM_032043.2(BRIP1):c.807dup (p.Gly270fs) rs1555609214
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.2(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.2(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.2(BRIP1):c.984_985insA (p.Gln329fs) rs1555607759

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