ClinVar Miner

List of variants reported as uncertain significance for breast cancer by Mendelics

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.319+3966G>A rs137926355 0.00040
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
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_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn) rs145629242 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg) rs749383704 0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) rs200254470 0.00004
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) rs587780030 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) rs756116550 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg) rs587781376 0.00003
NM_000465.4(BARD1):c.77T>G (p.Met26Arg) rs759957629 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) rs373959274 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) rs876659950 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) rs369132015 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_000465.4(BARD1):c.1109G>A (p.Arg370His) rs730881416 0.00001
NM_000465.4(BARD1):c.1594G>A (p.Asp532Asn) rs757281184 0.00001
NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly) rs767765131 0.00001
NM_000465.4(BARD1):c.2054A>G (p.His685Arg) rs368488821 0.00001
NM_000465.4(BARD1):c.2057A>G (p.His686Arg) rs864622380 0.00001
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala) rs771852699 0.00001
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu) rs750350372 0.00001
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp) rs587780038 0.00001
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys) rs905626929 0.00001
NM_007194.4(CHEK2):c.-9G>C rs1489154308 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) rs876660046 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala) rs150636811 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) rs761478794 0.00001
NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala) rs767056829 0.00001
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg) rs760045493 0.00001
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) rs786203296 0.00001
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) rs587782765 0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly) rs45504298 0.00001
NM_032043.3(BRIP1):c.2257+5C>T rs1057523068 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly) rs769359514 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser) rs1265322103 0.00001
NM_000038.6(APC):c.170A>T (p.Asp57Val) rs794729227
NM_000465.4(BARD1):c.1002G>T (p.Lys334Asn) rs1574818027
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln) rs1401955290
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr) rs750827325
NM_000465.4(BARD1):c.1288A>G (p.Thr430Ala) rs1574815970
NM_000465.4(BARD1):c.1297C>T (p.His433Tyr) rs1574815914
NM_000465.4(BARD1):c.1314+5G>A rs868089048
NM_000465.4(BARD1):c.1335A>C (p.Glu445Asp) rs1574792945
NM_000465.4(BARD1):c.1376A>G (p.His459Arg) rs587781621
NM_000465.4(BARD1):c.1564G>T (p.Ala522Ser) rs730881419
NM_000465.4(BARD1):c.1610A>G (p.Glu537Gly) rs1553616390
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro) rs786201905
NM_000465.4(BARD1):c.1816C>T (p.His606Tyr) rs1559386300
NM_000465.4(BARD1):c.1886G>T (p.Trp629Leu) rs747446711
NM_000465.4(BARD1):c.1906G>A (p.Val636Ile) rs1553612541
NM_000465.4(BARD1):c.2125C>T (p.Pro709Ser) rs1040231633
NM_000465.4(BARD1):c.2192G>A (p.Arg731His) rs587782248
NM_000465.4(BARD1):c.2206T>C (p.Tyr736His) rs1559371905
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys) rs777013688
NM_000465.4(BARD1):c.491A>C (p.Gln164Pro) rs980413835
NM_000465.4(BARD1):c.53A>T (p.Asn18Ile) rs1064793727
NM_000465.4(BARD1):c.675A>T (p.Glu225Asp) rs1559425348
NM_000465.4(BARD1):c.752G>A (p.Ser251Asn) rs1553622477
NM_000465.4(BARD1):c.769G>A (p.Glu257Lys) rs587782673
NM_000465.4(BARD1):c.7G>T (p.Asp3Tyr) rs1060501282
NM_000465.4(BARD1):c.994A>T (p.Ile332Phe) rs543606863
NM_007194.4(CHEK2):c.-7+4A>G rs1601377191
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly) rs1601853229
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) rs1555913188
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile) rs876660873
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) rs764396738
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) rs1060502682
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser) rs149501505
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) rs876658140
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) rs878854919
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr) rs1569159072
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys) rs1060502689
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg) rs1569158689
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val) rs779322187
NM_007194.4(CHEK2):c.847-3T>G rs1159089063
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser) rs1555932749
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp) rs786202943
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys) rs1184603042
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe) rs876659671
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu) rs876660397
NM_024675.4(PALB2):c.212-1G>T rs1597099910
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser) rs1567217401
NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala) rs753204710
NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe) rs876660357
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala) rs1567212837
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu) rs1567209813
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.538G>A (p.Glu180Lys) rs750782778
NM_024675.4(PALB2):c.874C>A (p.Gln292Lys) rs1335897946
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe) rs200144401
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1355A>G (p.Asn452Ser) rs1603340413
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe) rs1603333007
NM_032043.3(BRIP1):c.1934A>G (p.Gln645Arg) rs876660648
NM_032043.3(BRIP1):c.1935+4A>T rs1603332968
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile) rs1060501727
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.3749A>T (p.Ter1250Leu) rs1603274602
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815

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