ClinVar Miner

List of variants in gene CHEK2 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 485
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
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_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
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.541C>T (p.Arg181Cys) rs137853010 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_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) rs587780178 0.00004
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 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_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) rs773846607 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.1351G>A (p.Val451Ile) rs548796284 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 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.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His) rs769933461 0.00002
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala) rs749158713 0.00002
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) rs1060502702 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.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu) rs779269031 0.00002
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) rs537051622 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 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_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu) rs144850845 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.60G>T (p.Gln20His) rs375507194 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_007194.4(CHEK2):c.1009-7T>G rs763174055 0.00001
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) rs374660293 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) rs202051128 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.1052A>C (p.Glu351Ala) rs786202893 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) rs760449049 0.00001
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140 0.00001
NM_007194.4(CHEK2):c.1096-6T>G rs1180195480 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser) rs587780168 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp) rs786202164 0.00001
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp) rs527878975 0.00001
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) rs1342820782 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr) rs758206293 0.00001
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) rs369070738 0.00001
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His) rs766191039 0.00001
NM_007194.4(CHEK2):c.1260-1G>A rs786201906 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.1321A>G (p.Thr441Ala) rs876660046 0.00001
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) rs139088611 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu) rs1601852941 0.00001
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) rs776093527 0.00001
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro) rs769729382 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg) rs529571124 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr) rs773600515 0.00001
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.1462-12A>G rs1339529482 0.00001
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173 0.00001
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) rs730881694 0.00001
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe) rs28909981 0.00001
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) rs753204096 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val) rs2052180370 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) rs864622684 0.00001
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013 0.00001
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu) rs758792132 0.00001
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr) rs1300016035 0.00001
NM_007194.4(CHEK2):c.307T>C (p.Phe103Leu) rs587781669 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) rs876661027 0.00001
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys) rs587781982 0.00001
NM_007194.4(CHEK2):c.354C>A (p.Asp118Glu) rs757340619 0.00001
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys) rs876658557 0.00001
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu) rs587781879 0.00001
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu) rs1275395933 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 0.00001
NM_007194.4(CHEK2):c.444+3A>G rs587781279 0.00001
NM_007194.4(CHEK2):c.444+6T>C rs1060502720 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser) rs587782413 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) rs876659400 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) rs786203483 0.00001
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro) rs766599514 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724 0.00001
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) rs767253467 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) rs775134484 0.00001
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val) rs778212685 0.00001
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr) rs1555921335 0.00001
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg) rs587782419 0.00001
NM_007194.4(CHEK2):c.716A>G (p.Glu239Gly) rs763892124 0.00001
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193 0.00001
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile) rs142243299 0.00001
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) rs730881686 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.793G>C (p.Asp265His) rs1064793689 0.00001
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln) rs749963436 0.00001
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196 0.00001
NM_007194.4(CHEK2):c.846+3A>G rs1476026799 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met) rs756692505 0.00001
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) rs876659553 0.00001
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) rs779607427 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) rs587782033 0.00001
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191 0.00001
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
NM_007194.4(CHEK2):c.*10T>G rs2052178966
NM_007194.4(CHEK2):c.-3G>C rs876659027
NM_007194.4(CHEK2):c.-6-12T>A rs1064793997
NM_007194.4(CHEK2):c.-6-6T>C
NM_007194.4(CHEK2):c.-6-6_-6-4del rs1183266210
NM_007194.4(CHEK2):c.-6-8T>A rs1555932995
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr) rs864622371
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro) rs864622371
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro) rs1300388084
NM_007194.4(CHEK2):c.1008+4A>G rs2052755619
NM_007194.4(CHEK2):c.1008+6A>G
NM_007194.4(CHEK2):c.100C>A (p.Gln34Lys) rs1231012263
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) rs374660293
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr) rs371207635
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln) rs2052614326
NM_007194.4(CHEK2):c.1019A>C (p.Glu340Ala)
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val) rs1555914358
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.1036C>G (p.Arg346Gly) rs201206424
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala) rs876659406
NM_007194.4(CHEK2):c.104C>A (p.Ser35Tyr) rs786203185
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys) rs786203185
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe) rs786203185
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys) rs1555914308
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln) rs1555914308
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser) rs764181318
NM_007194.4(CHEK2):c.1060T>G (p.Leu354Val) rs1555914287
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro) rs2052608641
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) rs765425451
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1096-7A>T rs2052567957
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys) rs1555932959
NM_007194.4(CHEK2):c.110G>A (p.Gly37Asp) rs764750609
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe) rs147877722
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.1118A>C (p.Lys373Thr) rs786202446
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val) rs774192195
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr) rs2054329519
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr) rs1569114039
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe) rs145324174
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val) rs1555913820
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) rs1060502696
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn) rs587780168
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) rs587780168
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) rs730881690
NM_007194.4(CHEK2):c.1181A>G (p.Glu394Gly)
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1199G>T (p.Gly400Val) rs1476312560
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val) rs1175088679
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val) rs1555913720
NM_007194.4(CHEK2):c.1205_1206inv (p.Ala402Glu)
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn) rs1555913715
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys) rs1060502707
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser) rs587782527
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly) rs1555913689
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe) rs121908694
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg) rs587780172
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly) rs587780172
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg) rs2052550972
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn) rs1555913662
NM_007194.4(CHEK2):c.1236T>A (p.Ser412Arg) rs1601722002
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile) rs1601721900
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp) rs748555394
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) rs760118917
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr) rs1555913642
NM_007194.4(CHEK2):c.1247T>G (p.Ile416Ser) rs1555913642
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro) rs1569113171
NM_007194.4(CHEK2):c.1252T>A (p.Phe418Ile) rs1064793737
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu) rs1064793737
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu) rs774870353
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val) rs1569113123
NM_007194.4(CHEK2):c.1259+5G>A rs1555913629
NM_007194.4(CHEK2):c.1259+5G>C rs1555913629
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1259G>C (p.Cys420Ser) rs578218280
NM_007194.4(CHEK2):c.1260-11C>G rs1253886648
NM_007194.4(CHEK2):c.1260-13T>C rs2052527910
NM_007194.4(CHEK2):c.1260-15T>G rs1569112557
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His) rs1060502714
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1273C>G (p.Pro425Ala) rs1423670346
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) rs1064795041
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met) rs876660323
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His) rs200050883
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly) rs1569112074
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val) rs1569112074
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu) rs778989252
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu) rs587780176
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr) rs1569171123
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr) rs1555913437
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp) rs139088611
NM_007194.4(CHEK2):c.136A>G (p.Met46Val) rs1601852941
NM_007194.4(CHEK2):c.1376-4T>G rs1601716727
NM_007194.4(CHEK2):c.1376-7_1376-4del
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) rs1555913188
NM_007194.4(CHEK2):c.1394A>G (p.Lys465Arg)
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) rs876658456
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser) rs1555913161
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile) rs876660084
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala) rs763344790
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser) rs2052470634
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) rs1060502713
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu) rs2052470344
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) rs1064793511
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser) rs540635787
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys) rs142763740
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg) rs142763740
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile) rs762488591
NM_007194.4(CHEK2):c.1444A>G (p.Arg482Gly) rs1601715996
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser) rs548850521
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1461+6T>C rs1064795915
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) rs730881694
NM_007194.4(CHEK2):c.1475_1477del (p.Lys492del) rs1555912075
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr) rs1569104499
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe) rs2052245756
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) rs1060502682
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro) rs1338238773
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His) rs1569104011
NM_007194.4(CHEK2):c.1538C>A (p.Ala513Asp)
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1543-3C>T rs759366945
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr) rs1399879170
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del) rs1555911626
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser) rs1555911631
NM_007194.4(CHEK2):c.1552A>T (p.Ser518Cys) rs753560465
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg) rs780512032
NM_007194.4(CHEK2):c.1577A>G (p.Glu526Gly) rs746341976
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr) rs1444665408
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) rs587781710
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) rs587781710
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly) rs1569102183
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.1597A>T (p.Thr533Ser) rs562517792
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu) rs1555911558
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.1606C>T (p.Pro536Ser)
NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup) rs1569101939
NM_007194.4(CHEK2):c.169T>C (p.Ser57Pro) rs2054323662
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys) rs730881695
NM_007194.4(CHEK2):c.17A>G (p.Asp6Gly)
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly) rs766499735
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) rs876659424
NM_007194.4(CHEK2):c.194C>T (p.Thr65Ile) rs864622684
NM_007194.4(CHEK2):c.196G>A (p.Val66Met) rs730881696
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) rs863224748
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe) rs886041171
NM_007194.4(CHEK2):c.214T>C (p.Tyr72His) rs1569170484
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser) rs769819013
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val) rs1555932352
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3]) rs587780181
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) rs876659006
NM_007194.4(CHEK2):c.252_254delinsGCT (p.Pro85Leu) rs1569170273
NM_007194.4(CHEK2):c.254C>A (p.Pro85His) rs17883862
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.256G>C (p.Glu86Gln) rs551930027
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr) rs757530141
NM_007194.4(CHEK2):c.260_261insCCAAGAGCCTGAGGA (p.77DQEPE[3]) rs1555932249
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly) rs1456931393
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val) rs1456931393
NM_007194.4(CHEK2):c.271_272delinsAA (p.Ala91Asn) rs1555932194
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser) rs1555932172
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg) rs779269031
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.280G>C (p.Ala94Pro) rs753860983
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln) rs750596499
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) rs750596499
NM_007194.4(CHEK2):c.298C>A (p.Gln100Lys) rs2054311767
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu) rs1569169871
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val) rs1555932082
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) rs876658140
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) rs878854919
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) rs369256181
NM_007194.4(CHEK2):c.331G>A (p.Asp111Asn) rs1569159072
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys) rs1060502689
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys) rs770343235
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys) rs756949505
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser) rs1060502706
NM_007194.4(CHEK2):c.347G>C (p.Gly116Ala) rs745943179
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met) rs587781982
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu) rs757340619
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn) rs786202246
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys) rs1166395498
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe) rs777887044
NM_007194.4(CHEK2):c.38A>G (p.His13Arg) rs1064793324
NM_007194.4(CHEK2):c.392A>T (p.Lys131Ile) rs1569158689
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.3G>C (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys) rs1569158606
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.429C>G (p.His143Gln) rs1555927151
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro) rs587781667
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe) rs781678896
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr) rs142966756
NM_007194.4(CHEK2):c.444+3A>T rs587781279
NM_007194.4(CHEK2):c.445-11C>T rs1024561307
NM_007194.4(CHEK2):c.445-9C>G rs1064794870
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln) rs587782560
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys) rs564924749
NM_007194.4(CHEK2):c.463T>G (p.Ser155Ala) rs1175278074
NM_007194.4(CHEK2):c.467A>T (p.Tyr156Phe) rs1555927004
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg) rs1426424086
NM_007194.4(CHEK2):c.46A>G (p.Ser16Gly) rs1426424086
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys) rs1060502718
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu) rs876659950
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.47G>A (p.Ser16Asn) rs1060502705
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.488A>G (p.His163Arg) rs752304641
NM_007194.4(CHEK2):c.490A>C (p.Ser164Arg) rs2053945090
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp) rs876659089
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val) rs876659653
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser) rs1555926890
NM_007194.4(CHEK2):c.509T>C (p.Val170Ala)
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala) rs786203836
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu) rs2053942160
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala) rs1555926862
NM_007194.4(CHEK2):c.526G>A (p.Gly176Arg) rs876661085
NM_007194.4(CHEK2):c.52T>G (p.Cys18Gly) rs2054336674
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg) rs1457055483
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu) rs137853009
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr) rs151218932
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser) rs151218932
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser) rs2053939966
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile) rs369223840
NM_007194.4(CHEK2):c.55T>A (p.Ser19Thr) rs2146154587
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg) rs786203042
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) rs786203042
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp) rs1060502693
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu) rs2053936071
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile) rs730881704
NM_007194.4(CHEK2):c.601T>C (p.Phe201Leu) rs786202416
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu) rs758529351
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys) rs2053696167
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro) rs1569150113
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) rs587780187
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del) rs1385692387
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.630A>G (p.Ser210=)
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu) rs1569149890
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile) rs1486909310
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu) rs907621837
NM_007194.4(CHEK2):c.658T>G (p.Tyr220Asp)
NM_007194.4(CHEK2):c.65A>G (p.His22Arg) rs1601853800
NM_007194.4(CHEK2):c.664A>G (p.Met222Val) rs786203472
NM_007194.4(CHEK2):c.673A>G (p.Thr225Ala) rs1555924390
NM_007194.4(CHEK2):c.67G>A (p.Gly23Ser) rs1569171589
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys) rs745475247
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) rs778212685
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp) rs1601853772
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu) rs779322187
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp) rs878854921
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln) rs121908702
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val) rs763892124
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr) rs1323633806
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) rs765136136
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp) rs1064795978
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.775G>C (p.Gly259Arg) rs786201923
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys) rs730881686
NM_007194.4(CHEK2):c.788_790dup (p.Glu263dup) rs876660660
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser) rs752493299
NM_007194.4(CHEK2):c.793-12T>G rs1555920271
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn) rs1064793689
NM_007194.4(CHEK2):c.794A>C (p.Asp265Ala)
NM_007194.4(CHEK2):c.802C>A (p.Leu268Ile) rs766462610
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) rs766462610
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp) rs2053336086
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro) rs1060502697
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala) rs1426981647
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile) rs2053334664
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe) rs876659698
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr) rs587782196
NM_007194.4(CHEK2):c.845A>G (p.His282Arg) rs1555920110
NM_007194.4(CHEK2):c.847-2_857del rs2145878627
NM_007194.4(CHEK2):c.847-7T>C rs1057520267
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser) rs1555917036
NM_007194.4(CHEK2):c.848C>A (p.Pro283His) rs781222802
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val) rs1555917027
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val) rs986132746
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr) rs1555917019
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) rs876659184
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro) rs876660019
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile) rs2052980010
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly) rs1555916963
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly) rs777397542
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val) rs777397542
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser) rs1555932749
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn) rs876659870
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr) rs876659870
NM_007194.4(CHEK2):c.89G>T (p.Gly30Val)
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro) rs779607427
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp) rs886039739
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.909-14C>A
NM_007194.4(CHEK2):c.913G>C (p.Glu305Gln)
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu) rs587780192
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) rs587780192
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met) rs1569121657
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe) rs1555932714
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala) rs1039682955
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu) rs778573074
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu) rs1555915471
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys) rs1569121419
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu) rs143611747
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu) rs587782480
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn) rs1237880782
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp) rs1060502712
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193
NM_007194.4(CHEK2):c.985T>A (p.Tyr329Asn) rs866542645
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr) rs1555915352
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val) rs1555915348

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