ClinVar Miner

List of variants in gene BRIP1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP
NM_032043.2(BRIP1):c.*13C>T rs1057524296
NM_032043.2(BRIP1):c.*15C>G rs1057523100
NM_032043.2(BRIP1):c.*2090G>C rs60657820
NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA rs1555571892
NM_032043.2(BRIP1):c.-30-3T>C rs370728413
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.-32A>G rs1057520586
NM_032043.2(BRIP1):c.-34A>G rs1555618993
NM_032043.2(BRIP1):c.-38C>G rs371225829
NM_032043.2(BRIP1):c.-5G>A rs754270436
NM_032043.2(BRIP1):c.-6A>C rs1442433909
NM_032043.2(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791
NM_032043.2(BRIP1):c.1041A>G (p.Leu347=) rs1555607724
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.104G>T (p.Gly35Val) rs876659168
NM_032043.2(BRIP1):c.1053A>G (p.Pro351=) rs544977115
NM_032043.2(BRIP1):c.1089C>T (p.Asp363=) rs139701369
NM_032043.2(BRIP1):c.1104C>T (p.Pro368=) rs1555607667
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1141-9A>G rs1555607258
NM_032043.2(BRIP1):c.1149A>G (p.Leu383=) rs1567829755
NM_032043.2(BRIP1):c.1176A>G (p.Leu392=) rs550092661
NM_032043.2(BRIP1):c.1182A>G (p.Glu394=) rs1555607195
NM_032043.2(BRIP1):c.1194C>T (p.Ile398=) rs757427498
NM_032043.2(BRIP1):c.120A>G (p.Gln40=) rs878855136
NM_032043.2(BRIP1):c.1227T>C (p.Ser409=) rs1555607150
NM_032043.2(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1257G>A (p.Arg419=) rs148429663
NM_032043.2(BRIP1):c.1277T>G (p.Val426Gly) rs1567829202
NM_032043.2(BRIP1):c.1287T>C (p.Asn429=) rs863224431
NM_032043.2(BRIP1):c.1314A>G (p.Leu438=) rs1291435424
NM_032043.2(BRIP1):c.1340+14T>C rs1057522789
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.1380T>C (p.Asp460=) rs758735370
NM_032043.2(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1422C>T (p.Leu474=) rs1555605898
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1443T>C (p.Gly481=) rs775431508
NM_032043.2(BRIP1):c.1465A>G (p.Ile489Val) rs1555605855
NM_032043.2(BRIP1):c.1473+13_1473+14delTT rs876660968
NM_032043.2(BRIP1):c.1473+19C>T rs201603389
NM_032043.2(BRIP1):c.1473+20delT rs1064795990
NM_032043.2(BRIP1):c.1474-17A>T rs762049694
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1485T>G (p.Ser495=) rs370658123
NM_032043.2(BRIP1):c.1506A>G (p.Glu502=) rs1057523215
NM_032043.2(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.2(BRIP1):c.1566A>G (p.Ser522=) rs985465808
NM_032043.2(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299
NM_032043.2(BRIP1):c.1594A>G (p.Met532Val) rs876658383
NM_032043.2(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) rs373709958
NM_032043.2(BRIP1):c.1628+18G>A rs1005163267
NM_032043.2(BRIP1):c.1628+18G>C rs1005163267
NM_032043.2(BRIP1):c.1628+20A>G rs200292462
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1629-14T>C rs1057523831
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1653G>A (p.Ala551=) rs750213758
NM_032043.2(BRIP1):c.1659A>G (p.Gln553=) rs876660693
NM_032043.2(BRIP1):c.1661A>G (p.Gln554Arg) rs1567813893
NM_032043.2(BRIP1):c.1695A>C (p.Ser565=) rs142572387
NM_032043.2(BRIP1):c.1698C>T (p.Asp566=) rs1555602561
NM_032043.2(BRIP1):c.1727A>G (p.Asn576Ser) rs587778132
NM_032043.2(BRIP1):c.1727dup (p.Asn576fs) rs587778131
NM_032043.2(BRIP1):c.1731G>A (p.Lys577=) rs587780829
NM_032043.2(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133
NM_032043.2(BRIP1):c.1767A>G (p.Leu589=) rs1057523711
NM_032043.2(BRIP1):c.1773T>C (p.Phe591=) rs1057523507
NM_032043.2(BRIP1):c.1794+19T>C rs752328575
NM_032043.2(BRIP1):c.1794+6C>T rs1429375125
NM_032043.2(BRIP1):c.1795-12_1795-10delGTT rs1475317357
NM_032043.2(BRIP1):c.1795-18A>G rs1057524698
NM_032043.2(BRIP1):c.1795-47G>C rs4988351
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1806T>C (p.Asp602=) rs878855142
NM_032043.2(BRIP1):c.1808T>C (p.Ile603Thr) rs1555602215
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.1899C>G (p.Ile633Met) rs28997572
NM_032043.2(BRIP1):c.1903C>T (p.Leu635=) rs754280136
NM_032043.2(BRIP1):c.1935+11G>T rs79121306
NM_032043.2(BRIP1):c.1935+7T>C rs201024366
NM_032043.2(BRIP1):c.1936-4C>T rs587780552
NM_032043.2(BRIP1):c.1953T>C (p.Ile651=) rs754400631
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1973G>A (p.Arg658Gln) rs759142191
NM_032043.2(BRIP1):c.1989C>A (p.Thr663=) rs376628979
NM_032043.2(BRIP1):c.2012A>G (p.Glu671Gly) rs587778135
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.205+16A>G rs1057520253
NM_032043.2(BRIP1):c.206-21T>C rs2048717
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.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2098-16dupT rs1064793669
NM_032043.2(BRIP1):c.2098-17T>C rs1555591574
NM_032043.2(BRIP1):c.2098-3T>C rs1057520463
NM_032043.2(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
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.2193A>G (p.Glu731=) rs781712098
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.2(BRIP1):c.2232C>G (p.Asp744Glu) rs374362388
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2257+17T>C rs730881639
NM_032043.2(BRIP1):c.2257+19A>C rs77851913
NM_032043.2(BRIP1):c.2257+5C>T rs1057523068
NM_032043.2(BRIP1):c.2258-10G>A rs1250252907
NM_032043.2(BRIP1):c.2258-19C>T rs1057524575
NM_032043.2(BRIP1):c.2258-20G>A rs1555590610
NM_032043.2(BRIP1):c.2258-3A>G rs786203561
NM_032043.2(BRIP1):c.2258-7_2258-4delGTTT rs1064795010
NM_032043.2(BRIP1):c.225C>T (p.Gly75=) rs186802750
NM_032043.2(BRIP1):c.2274A>G (p.Val758=) rs786201526
NM_032043.2(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
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.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2328C>T (p.Ala776=) rs786203725
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2379+7C>T rs1057520464
NM_032043.2(BRIP1):c.2386C>T (p.Leu796=) rs1057521362
NM_032043.2(BRIP1):c.2388A>G (p.Leu796=) rs1057521977
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.2(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.2(BRIP1):c.2405A>G (p.Asp802Gly) rs876660273
NM_032043.2(BRIP1):c.240T>G (p.Ala80=) rs745422385
NM_032043.2(BRIP1):c.2419T>C (p.Leu807=) rs786201708
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2469G>A (p.Arg823=) rs587780239
NM_032043.2(BRIP1):c.2492+19_2492+24delAATATAinsT rs1555580746
NM_032043.2(BRIP1):c.2493-11A>G rs890923836
NM_032043.2(BRIP1):c.2493-4C>G rs1057521675
NM_032043.2(BRIP1):c.2559A>C (p.Pro853=) rs1555574735
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2568T>C (p.Tyr856=) rs370175724
NM_032043.2(BRIP1):c.2575+12G>C rs1555574706
NM_032043.2(BRIP1):c.2576-17T>C rs1057517647
NM_032043.2(BRIP1):c.2576-19G>T rs1057521888
NM_032043.2(BRIP1):c.2576-7T>C rs759408257
NM_032043.2(BRIP1):c.2576-8T>C rs587780874
NM_032043.2(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2682A>G (p.Val894=) rs1555573439
NM_032043.2(BRIP1):c.2684C>A (p.Ser895Tyr) rs1555573437
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2718G>A (p.Glu906=) rs1042327124
NM_032043.2(BRIP1):c.2748C>T (p.Tyr916=) rs555200296
NM_032043.2(BRIP1):c.2751T>C (p.Ser917=) rs150780318
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2767C>T (p.Leu923=) rs1057521544
NM_032043.2(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679
NM_032043.2(BRIP1):c.2803G>A (p.Val935Met) rs1219152456
NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) rs4988356
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
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.2835A>G (p.Glu945=) rs786203633
NM_032043.2(BRIP1):c.2847T>C (p.Pro949=) rs45499991
NM_032043.2(BRIP1):c.2870C>T (p.Pro957Leu) rs786203077
NM_032043.2(BRIP1):c.2906-15T>A rs771068891
NM_032043.2(BRIP1):c.2906-16dup rs1456830185
NM_032043.2(BRIP1):c.2906-61A>G rs797045415
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.2974A>G (p.Thr992Ala) rs1276811545
NM_032043.2(BRIP1):c.297C>G (p.Asp99Glu)
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.2(BRIP1):c.3027A>G (p.Gly1009=) rs786201171
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3069C>T (p.Leu1023=) rs61754142
NM_032043.2(BRIP1):c.3072G>A (p.Gly1024=) rs778500245
NM_032043.2(BRIP1):c.3093T>C (p.Ser1031=) rs937490699
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.30T>C (p.Ile10=) rs767215118
NM_032043.2(BRIP1):c.3104G>A (p.Arg1035His) rs367816363
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.317G>A (p.Arg106His) rs143615668
NM_032043.2(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972
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.3243C>T (p.Ala1081=) rs754003636
NM_032043.2(BRIP1):c.3252T>C (p.Thr1084=) rs1555572745
NM_032043.2(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830
NM_032043.2(BRIP1):c.3276G>A (p.Pro1092=) rs375911315
NM_032043.2(BRIP1):c.3296T>G (p.Leu1099Arg) rs772709195
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.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.3384A>G (p.Glu1128=) rs868546317
NM_032043.2(BRIP1):c.33T>C (p.Gly11=) rs759187663
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.342A>G (p.Pro114=) rs756764576
NM_032043.2(BRIP1):c.343C>T (p.Pro115Ser) rs876659142
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.3472T>C (p.Leu1158=) rs1060504330
NM_032043.2(BRIP1):c.3489T>C (p.Asp1163=) rs144245485
NM_032043.2(BRIP1):c.3503A>C (p.Lys1168Thr) rs749589266
NM_032043.2(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
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.3571A>G (p.Ile1191Val) rs761405340
NM_032043.2(BRIP1):c.357T>C (p.Asn119=) rs786202477
NM_032043.2(BRIP1):c.3582G>A (p.Lys1194=) rs1555572521
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.3681T>C (p.His1227=) rs370581038
NM_032043.2(BRIP1):c.36G>C (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.3701T>G (p.Phe1234Cys) rs587778137
NM_032043.2(BRIP1):c.3710C>A (p.Ser1237Tyr) rs587781819
NM_032043.2(BRIP1):c.3717C>T (p.Ser1239=) rs758809865
NM_032043.2(BRIP1):c.3723T>C (p.Asn1241=) rs1555572429
NM_032043.2(BRIP1):c.379+18T>C rs1402237232
NM_032043.2(BRIP1):c.379+8A>C rs1057520254
NM_032043.2(BRIP1):c.380-17T>A rs200050729
NM_032043.2(BRIP1):c.380-17delT rs545021924
NM_032043.2(BRIP1):c.380-24dup rs545021924
NM_032043.2(BRIP1):c.384C>A (p.Ser128=) rs1555616231
NM_032043.2(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.2(BRIP1):c.38T>C (p.Val13Ala) rs1555618729
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.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.438A>C (p.Ile146=) rs886038702
NM_032043.2(BRIP1):c.507+10G>A rs1057523376
NM_032043.2(BRIP1):c.507+11T>G rs1057522122
NM_032043.2(BRIP1):c.507+14A>G rs754102734
NM_032043.2(BRIP1):c.507+19C>T rs1057520658
NM_032043.2(BRIP1):c.507+20A>C rs369270945
NM_032043.2(BRIP1):c.507+9_507+10delAG rs747185394
NM_032043.2(BRIP1):c.508-15G>T rs1057523603
NM_032043.2(BRIP1):c.508-16G>C rs1423428195
NM_032043.2(BRIP1):c.508-31C>G rs4988344
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.576T>C (p.Thr192=) rs781282996
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.587A>G (p.Asn196Ser) rs550707862
NM_032043.2(BRIP1):c.590C>T (p.Ser197Phe) rs533184563
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.617C>T (p.Ser206Leu) rs565458815
NM_032043.2(BRIP1):c.618G>A (p.Ser206=) rs367614726
NM_032043.2(BRIP1):c.628-11C>G rs762672738
NM_032043.2(BRIP1):c.628-16C>A rs770648312
NM_032043.2(BRIP1):c.628-20G>A rs533827333
NM_032043.2(BRIP1):c.630C>T (p.Pro210=) rs864622510
NM_032043.2(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.2(BRIP1):c.672A>G (p.Gly224=) rs752356873
NM_032043.2(BRIP1):c.684G>A (p.Glu228=) rs876659909
NM_032043.2(BRIP1):c.690G>C (p.Ser230=) rs751460179
NM_032043.2(BRIP1):c.697A>G (p.Ile233Val) rs769535320
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.753C>T (p.Arg251=) rs876659416
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.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.864A>G (p.Val288=) rs748545827
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+8A>C rs765147876
NM_032043.2(BRIP1):c.924A>G (p.Lys308=) rs374974885
NM_032043.2(BRIP1):c.929G>A (p.Cys310Tyr) rs1567832184
NM_032043.2(BRIP1):c.93+12_93+13insTT rs1064794767
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.2(BRIP1):c.93+17A>G rs778826728
NM_032043.2(BRIP1):c.93+4_93+7delAGTA rs1224034842
NM_032043.2(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.2(BRIP1):c.94-18T>G rs2138005
NM_032043.2(BRIP1):c.94-20A>G rs1057524484
NM_032043.2(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032043.2(BRIP1):c.984C>T (p.Phe328=) rs745379285

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