ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
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.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_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser) rs752871324 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 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_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr) rs587782040 0.00004
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr) rs199780731 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 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.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) rs773340677 0.00003
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) rs761032954 0.00003
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) rs587782217 0.00003
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val) rs863224798 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 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.2567A>G (p.Tyr856Cys) rs781556845 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 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.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys) rs587781596 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln) rs201035780 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) rs201042302 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) rs515726116 0.00002
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp) rs876660519 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser) rs730881623 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe) rs758049210 0.00001
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys) rs878854014 0.00001
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu) rs148760338 0.00001
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) rs587782675 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His) rs878854915 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.444+3A>G rs587781279 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) rs775134484 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met) rs767656411 0.00001
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) rs876659751 0.00001
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) rs587782483 0.00001
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) rs749461008 0.00001
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) rs62625274 0.00001
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) rs587781824 0.00001
NM_024675.4(PALB2):c.1685-14T>A rs780772404 0.00001
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe) rs757397623 0.00001
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) rs1169756751 0.00001
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) rs749842477 0.00001
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) rs45537237 0.00001
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly) rs786202846 0.00001
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn) rs148026749 0.00001
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) rs587782765 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg) rs587778585 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) rs730881892 0.00001
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile) rs764140747 0.00001
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) rs863224783 0.00001
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) rs756906403 0.00001
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser) rs188254555 0.00001
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr) rs146444298 0.00001
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg) rs45566737 0.00001
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val) rs146659762 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) rs786203246 0.00001
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile) rs786202499 0.00001
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe) rs751882053 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615 0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816 0.00001
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met) rs1060501782 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 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.1684A>G (p.Ile562Val) rs45533636 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2492+5G>A rs763222019 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) rs863224801 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 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.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 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.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg) rs730881630 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala) rs1060501279
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn) rs1060501306
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu) rs730881417
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys) rs876660325
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup) rs763622701
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg) rs878854008
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) rs863224746
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) rs1555913523
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) rs878854915
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) rs369256181
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala) rs1060502703
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.847-6T>G rs1555917050
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) rs786204080
NM_024675.4(PALB2):c.1685-7T>G rs1555460705
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys) rs786203747
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del) rs781693946
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu) rs764925691
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) rs730881889
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) rs1060502744
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser) rs878855113
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) rs515726112
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) rs876658196
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del) rs760629975
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser) rs587780823
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg) rs587782658
NM_024675.4(PALB2):c.843_845del (p.Arg282del) rs786203247
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) rs180177094
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del) rs1555602554
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.3(BRIP1):c.2576-17T>G rs1057517647
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643

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