ClinVar Miner

Variants in gene BRIP1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
4432 865 0 142 129 0 23 269

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 77 4 1 1
likely pathogenic 77 0 21 0 0
uncertain significance 4 21 0 124 20
likely benign 1 0 124 0 65
benign 1 0 20 65 0

All variants with conflicting interpretations #

Total variants: 269
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=) rs145504336 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=) rs139701369 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=) rs730881640 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_032043.3(BRIP1):c.-5G>A rs754270436 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=) rs148429663 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His) rs768224857 0.00003
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=) rs766047812 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2492+8G>C rs772953115 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile) rs149529390 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_032043.3(BRIP1):c.379+4_379+5del rs773332695 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=) rs372760869 0.00002
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp) rs876660519 0.00002
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=) rs748981650 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=) rs113697814 0.00002
NM_032043.3(BRIP1):c.2905+4T>C rs373835270 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val) rs376893571 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.-6A>C rs1442433909 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=) rs761017296 0.00001
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met) rs730881634 0.00001
NM_032043.3(BRIP1):c.10A>G (p.Met4Val) rs45512093 0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter) rs1603342313 0.00001
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=) rs757427498 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs) rs1339743866 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.205+3A>G rs539329589 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2257+17T>C rs730881639 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile) rs769573395 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=) rs148752066 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.2493-11A>G rs890923836 0.00001
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val) rs764406913 0.00001
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu) rs587781644 0.00001
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr) rs1060501781 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) rs863224801 0.00001
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092 0.00001
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly) rs756490117 0.00001
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417 0.00001
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs) rs777367075 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=) rs758809865 0.00001
NM_032043.3(BRIP1):c.380-7A>G rs748143260 0.00001
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys) rs876660880 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro) rs771542690 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser) rs746599076 0.00001
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val) rs749251680
NM_032043.3(BRIP1):c.1140+3del rs2145331108
NM_032043.3(BRIP1):c.1141-9A>G rs1555607258
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr) rs779237423
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr) rs761452695
NM_032043.3(BRIP1):c.1473+4_1473+8del rs730881650
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile) rs1567816972
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1760A>G (p.His587Arg) rs876660646
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1795-12_1795-10del rs1475317357
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.1917T>C (p.His639=) rs763534423
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-3A>G rs786203561
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter) rs2061855838
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.2493-10T>A rs776255327
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser) rs2061477443
NM_032043.3(BRIP1):c.2576-17T>C rs1057517647
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn) rs750961319
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2906-7T>C rs1237575383
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer) rs2145828926
NM_032043.3(BRIP1):c.2939C>T (p.Ala980Val) rs781622986
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr) rs587781417
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.3125_3128dup (p.Ser1043fs) rs2061318885
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu) rs2061310712
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr) rs2061301543
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser) rs1567727439
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro) rs45617634
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_032043.3(BRIP1):c.380-28G>A rs4988343
NM_032043.3(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val) rs1567868598
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser) rs1064795902
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.508-8G>A rs202074040
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.618G>T (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.627+7A>G rs1060504334
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
NM_032043.3(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.3(BRIP1):c.646del (p.Arg216fs) rs1603347042
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del) rs876659379
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser) rs145601931
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.93+8T>G rs1567878012
NM_032043.3(BRIP1):c.942del (p.His314fs) rs2077993152

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.