ClinVar Miner

List of variants in gene BRIP1 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.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.595C>T (p.Leu199=) rs144969738 0.00014
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=) rs139701369 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.3079G>A (p.Glu1027Lys) rs371185409 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=) rs544977115 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 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.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 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.2863A>C (p.Asn955His) rs587782244 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=) rs775431508 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032043.3(BRIP1):c.69G>A (p.Pro23=) rs45458996 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu) rs777217004 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 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.2806G>A (p.Glu936Lys) rs754280048 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile) rs201672040 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 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.887A>G (p.Glu296Gly) rs878855158 0.00003
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
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.1741C>T (p.Arg581Ter) rs780020495 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.3296T>G (p.Leu1099Arg) rs772709195 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser) rs777630298 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala) rs777618772 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.791G>A (p.Arg264Gln) rs758360637 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_032043.3(BRIP1):c.-6A>C rs1442433909 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1074A>C (p.Leu358=) rs771682192 0.00001
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg) rs996493095 0.00001
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln) rs753214212 0.00001
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu) rs748221377 0.00001
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly) rs752052351 0.00001
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys) rs587780229 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala) rs1317946589 0.00001
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr) rs770750488 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_032043.3(BRIP1):c.2031A>T (p.Gly677=) rs1288620174 0.00001
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg) rs372581879 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala) rs769797684 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_032043.3(BRIP1):c.2304T>C (p.Gly768=) rs1603303843 0.00001
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=) rs148752066 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val) rs587780238 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val) rs764406913 0.00001
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr) rs1221074399 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser) rs781121675 0.00001
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile) rs786204068 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr) rs878855154 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=) rs758809865 0.00001
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg) rs786203708 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser) rs45624635 0.00001
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser) rs746599076 0.00001
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys) rs587782731 0.00001
NM_032043.3(BRIP1):c.984C>T (p.Phe328=) rs745379285 0.00001
GRCh37/hg19 17q23.2(chr17:59731311-59803110)x1
NM_032043.2(BRIP1):c.628-?_1473+?dup
NM_032043.3(BRIP1):c.-9G>C
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile) rs569696977
NM_032043.3(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.3(BRIP1):c.1182A>G (p.Glu394=) rs1555607195
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala) rs45576134
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr) rs1555607024
NM_032043.3(BRIP1):c.1340+7_1340+9del rs1413352933
NM_032043.3(BRIP1):c.1340+9A>T rs376487588
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile) rs748221377
NM_032043.3(BRIP1):c.1389A>G (p.Ser463=)
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.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu) rs876658725
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn) rs1443429619
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=) rs985465808
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val) rs375246789
NM_032043.3(BRIP1):c.1773T>C (p.Phe591=) rs1057523507
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.3(BRIP1):c.1896T>C (p.Thr632=) rs2077595308
NM_032043.3(BRIP1):c.1922T>C (p.Ile641Thr) rs1555602126
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT rs587781481
NM_032043.3(BRIP1):c.1950C>T (p.Thr650=) rs1603328999
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg) rs786203619
NM_032043.3(BRIP1):c.2019A>G (p.Gln673=) rs1008150951
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe) rs1555601056
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2093A>G (p.Tyr698Cys) rs1567808635
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.3(BRIP1):c.2154G>A (p.Glu718=) rs1057523978
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser) rs1555591351
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
NM_032043.3(BRIP1):c.2258-3A>G rs786203561
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys) rs768555161
NM_032043.3(BRIP1):c.2409C>T (p.His803=) rs762039913
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=) rs767666616
NM_032043.3(BRIP1):c.2493-10dup rs1457869893
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys) rs45572934
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del) rs587781388
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.2592A>G (p.Val864=) rs2061361778
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg) rs770966270
NM_032043.3(BRIP1):c.2745G>C (p.Lys915Asn) rs2061356129
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val) rs730881626
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu) rs786203077
NM_032043.3(BRIP1):c.2913A>G (p.Pro971=) rs1603275716
NM_032043.3(BRIP1):c.2958C>T (p.Ser986=) rs1603275662
NM_032043.3(BRIP1):c.2974A>G (p.Thr992Ala) rs1276811545
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
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.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=) rs61754142
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup) rs1187782159
NM_032043.3(BRIP1):c.3117G>A (p.Glu1039=) rs769310105
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp) rs2078907245
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu) rs369843642
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu) rs1555572672
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.33T>C (p.Gly11=) rs759187663
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr) rs749589266
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser) rs1567727439
NM_032043.3(BRIP1):c.363T>A (p.Thr121=) rs876660306
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs) rs752586524
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu) rs1265133595
NM_032043.3(BRIP1):c.380-1G>T
NM_032043.3(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.3(BRIP1):c.38T>C (p.Val13Ala) rs1555618729
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.432A>T (p.Ala144=) rs1342776835
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val) rs786203916
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile) rs876658780
NM_032043.3(BRIP1):c.554C>T (p.Ala185Val)
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn) rs1429063662
NM_032043.3(BRIP1):c.575C>G (p.Thr192Ser)
NM_032043.3(BRIP1):c.618G>A (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.630C>T (p.Pro210=) rs864622510
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu) rs780026145
NM_032043.3(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.3(BRIP1):c.738A>G (p.Ile246Met)
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser) rs1567837564
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile) rs587780252

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.