ClinVar Miner

List of variants reported for Familial cancer of breast by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 464
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.2834+18A>T rs114491776 0.00113
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) rs373876101 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024675.4(PALB2):c.48+7G>C rs190626072 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 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_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser) rs752871324 0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
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.1556G>T (p.Arg519Leu) rs587780180 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.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) rs576081828 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 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_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
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.1526C>T (p.Pro509Leu) rs587782541 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.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) rs773340677 0.00003
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met) rs730881886 0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) rs369113809 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) rs761032954 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) rs587782217 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) rs45548638 0.00003
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys) rs587781596 0.00002
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) rs370771157 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 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.793-17T>C rs778511901 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 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.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.1839G>A (p.Gln613=) rs199682414 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) rs201042302 0.00002
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) rs45464991 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) rs515726116 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe) rs758049210 0.00001
NM_000465.4(BARD1):c.1315-21C>A rs747393586 0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala) rs730881408 0.00001
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) rs150121935 0.00001
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs) rs587782046 0.00001
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys) rs878854014 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 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.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 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.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 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.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 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.232C>T (p.Gln78Ter) rs1555932341 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.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 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.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.908+18T>A rs755416802 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.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) rs587782483 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) rs749461008 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 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.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 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.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) rs749842477 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) rs45537237 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 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.2336C>G (p.Ser779Ter) rs764509489 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 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.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2748+13C>G rs771355581 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 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.3061G>A (p.Gly1021Arg) rs143808171 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.3201+20G>T rs774029323 0.00001
NM_024675.4(PALB2):c.3282G>A (p.Val1094=) rs747861082 0.00001
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser) rs188254555 0.00001
NM_024675.4(PALB2):c.3351-10A>G rs1057517611 0.00001
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) rs373783514 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.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val) rs146659762 0.00001
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) rs370404126 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser) rs587781498 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.660T>C (p.Ser220=) rs571762192 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 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.84C>T (p.Tyr28=) rs761533286 0.00001
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) rs45585833 0.00001
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) rs528541334 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_024675.4(PALB2):c.993A>G (p.Glu331=) rs760362870 0.00001
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
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.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1811-16dup rs760333316
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter) rs1350570988
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.215+20T>C rs200715720
NM_000465.4(BARD1):c.216-9A>T rs759575504
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg) rs878854008
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.364+16A>G rs201219625
NM_000465.4(BARD1):c.365-8del rs776103948
NM_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.-6-2A>G rs1555932985
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.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) rs1555913523
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) rs878854915
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) rs1555932071
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.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
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.444+1G>T rs121908698
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
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.593-1G>T rs786203229
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.847-6T>G rs1555917050
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) rs863224415
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
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.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) rs786204080
NM_024675.4(PALB2):c.1103del (p.Asn368fs) rs1555461451
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1485del (p.Asp496fs) rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1684+10G>T rs1057517620
NM_024675.4(PALB2):c.1685-7T>G rs1555460705
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys) rs786203747
NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer) rs1555460682
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.2067G>T (p.Ser689=) rs371149159
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.212-2A>T rs730881879
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.4(PALB2):c.2156del (p.Pro719fs) rs876660193
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del) rs781693946
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del) rs1555460399
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
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.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.4(PALB2):c.2514+20_2514+21del rs750567675
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) rs1060502744
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_024675.4(PALB2):c.2749-16_2749-14del rs765742648
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser) rs878855113
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) rs515726112
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) rs876658196
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.423G>A (p.Gln141=) rs786202680
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del) rs760629975
NM_024675.4(PALB2):c.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.666_669del (p.Leu222fs) rs1555461683
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.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.843_845del (p.Arg282del) rs786203247
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) rs180177094
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) rs1555461574
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup) rs876660786
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096

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