ClinVar Miner

List of variants in gene CHEK2 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
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.-40G>T rs142541707 0.00155
NM_007194.4(CHEK2):c.444+24C>T rs121908699 0.00150
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
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_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
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_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.444+19T>C rs200501745 0.00026
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.190G>A (p.Glu64Lys) rs141568342 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_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
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.1217G>A (p.Arg406His) rs200649225 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_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 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.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) rs531931623 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
NM_007194.4(CHEK2):c.-10dup rs886037743 0.00004
NM_007194.4(CHEK2):c.1008+8A>G rs139986197 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 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.1543-20C>G rs551645416 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 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_007194.4(CHEK2):c.908+19A>T rs759973493 0.00004
NM_007194.4(CHEK2):c.-17G>A rs887273410 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.1323C>T (p.Thr441=) rs753839004 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 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.1563G>A (p.Arg521=) rs761278013 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=) rs773670297 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.444+20G>T rs755989738 0.00003
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273 0.00003
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007194.4(CHEK2):c.909-18C>T rs1009670975 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.-11A>G rs554107994 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.1203T>C (p.Thr401=) rs560781587 0.00002
NM_007194.4(CHEK2):c.1259+17T>C rs746109434 0.00002
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) rs1060502702 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 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.295C>T (p.Leu99Phe) rs537051622 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 0.00002
NM_007194.4(CHEK2):c.432T>C (p.Phe144=) rs876658374 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.592+9A>G rs538351542 0.00002
NM_007194.4(CHEK2):c.600C>G (p.Val200=) rs141685349 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.684-20A>G rs1057520266 0.00002
NM_007194.4(CHEK2):c.684-6C>T rs776400765 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.*19G>A rs1057523052 0.00001
NM_007194.4(CHEK2):c.*6G>A rs775315910 0.00001
NM_007194.4(CHEK2):c.-20G>C rs566344661 0.00001
NM_007194.4(CHEK2):c.-34A>T rs121908696 0.00001
NM_007194.4(CHEK2):c.-6-20T>C rs1057523349 0.00001
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.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.1076A>G (p.Glu359Gly) rs760449049 0.00001
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) rs572668197 0.00001
NM_007194.4(CHEK2):c.1095+8A>G rs1057522814 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1260-18C>T rs1057521375 0.00001
NM_007194.4(CHEK2):c.1260-1G>A rs786201906 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101 0.00001
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His) rs587778194 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1375+26T>C rs527418829 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.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1461+18C>T rs1260246390 0.00001
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400 0.00001
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173 0.00001
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=) rs898342452 0.00001
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905 0.00001
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe) rs28909981 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898 0.00001
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) rs202104749 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.1593G>A (p.Glu531=) rs758555487 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.173G>C (p.Gly58Ala) rs1569170717 0.00001
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171 0.00001
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013 0.00001
NM_007194.4(CHEK2):c.225T>G (p.Pro75=) rs1217608176 0.00001
NM_007194.4(CHEK2):c.255T>C (p.Pro85=) rs1418971926 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.381A>G (p.Glu127=) rs199929178 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.444+6T>C rs1060502720 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 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.59A>G (p.Gln20Arg) rs753257724 0.00001
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) rs767253467 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.726A>G (p.Thr242=) rs150150389 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.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.792+17G>A rs1057523609 0.00001
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196 0.00001
NM_007194.4(CHEK2):c.846+12T>C rs1057524077 0.00001
NM_007194.4(CHEK2):c.847-7T>G rs1057520267 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_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.908+10A>G rs774973319 0.00001
NM_007194.4(CHEK2):c.908+16T>G rs1198651411 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.990G>A (p.Gln330=) rs9625537 0.00001
NM_007194.4(CHEK2):c.996C>T (p.Leu332=) rs1053994833 0.00001
NC_000022.10:g.(29083975_29085122)_(29085204_29090019)del
NC_000022.10:g.(29083975_29085122)_(29085204_29090019)dup
NC_000022.10:g.(?_29083730)_(29085204_29090019)dup
NC_000022.10:g.(?_29083730)_(29121356_29130390)dup
NM_007194.4(CHEK2):c.*16C>T rs1057522648
NM_007194.4(CHEK2):c.-26G>C rs1446969002
NM_007194.4(CHEK2):c.-27G>A rs1057522353
NM_007194.4(CHEK2):c.-28C>A rs1057520952
NM_007194.4(CHEK2):c.-28C>T rs1057520952
NM_007194.4(CHEK2):c.-32T>C rs536566373
NM_007194.4(CHEK2):c.-36AG[1] rs1555936097
NM_007194.4(CHEK2):c.-40G>C rs142541707
NM_007194.4(CHEK2):c.-6-29C>G
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1008+15C>G rs1555915284
NM_007194.4(CHEK2):c.1008+25G>T
NM_007194.4(CHEK2):c.1009-4G>A rs1057521735
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) rs374660293
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg) rs1555914365
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) rs863224746
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys) rs786203185
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr) rs1361935182
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser) rs764181318
NM_007194.4(CHEK2):c.105C>T (p.Ser35=) rs1057521541
NM_007194.4(CHEK2):c.108G>A (p.Gln36=) rs876660021
NM_007194.4(CHEK2):c.1096-14del
NM_007194.4(CHEK2):c.1096-47del
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly) rs1555913929
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=) rs1555913920
NM_007194.4(CHEK2):c.1113C>T (p.His371=) rs876659094
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr) rs1555913901
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=) rs79357544
NM_007194.4(CHEK2):c.1116C>T (p.Ser372=) rs79357544
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
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.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=) rs1350419049
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe) rs121908694
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile) rs1601721900
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) rs760118917
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser) rs1601721712
NM_007194.4(CHEK2):c.1259+14T>C rs780245762
NM_007194.4(CHEK2):c.1259+20C>T rs777379343
NM_007194.4(CHEK2):c.1259+7A>G rs1057523752
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr) rs1601719955
NM_007194.4(CHEK2):c.1299A>G (p.Gln433=) rs1057523319
NM_007194.4(CHEK2):c.129C>T (p.Thr43=) rs786202779
NM_007194.4(CHEK2):c.1302G>A (p.Val434=) rs1060504693
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg) rs764449869
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=) rs1057520523
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=) rs1057523229
NM_007194.4(CHEK2):c.1375+10T>C rs2052511807
NM_007194.4(CHEK2):c.1375+15G>T rs1057521502
NM_007194.4(CHEK2):c.1375+8T>A rs1057522436
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser) rs540635787
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=) rs1060504697
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) rs786203490
NM_007194.4(CHEK2):c.1448A>T (p.His483Leu)
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1461+5G>T rs769841229
NM_007194.4(CHEK2):c.1461+8T>C rs1057521960
NM_007194.4(CHEK2):c.1462-18T>C rs1555912108
NM_007194.4(CHEK2):c.1462-20T>G rs747767986
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg) rs1569171013
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val) rs549945536
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) rs1057521300
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) rs1057522770
NM_007194.4(CHEK2):c.1542+16A>G rs749728970
NM_007194.4(CHEK2):c.1542+7G>A rs4035547
NM_007194.4(CHEK2):c.1543-12_1543-3del rs1555911649
NM_007194.4(CHEK2):c.1543-37T>G
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys) rs876658872
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) rs587781710
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=) rs1057521299
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=) rs773670297
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) rs876659424
NM_007194.4(CHEK2):c.18T>C (p.Asp6=) rs1555932937
NM_007194.4(CHEK2):c.213C>G (p.Leu71=) rs1057524667
NM_007194.4(CHEK2):c.222T>C (p.Ile74=) rs876659629
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3]) rs587780181
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.274C>G (p.Pro92Ala)
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) rs876660497
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) rs750596499
NM_007194.4(CHEK2):c.319+7C>T rs1057522753
NM_007194.4(CHEK2):c.319+8C>A rs776443322
NM_007194.4(CHEK2):c.320-5T>C rs121908700
NM_007194.4(CHEK2):c.320-7A>G rs1555927424
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) rs878854919
NM_007194.4(CHEK2):c.346G>C (p.Gly116Arg) rs2146071181
NM_007194.4(CHEK2):c.388C>T (p.Leu130=) rs1057522274
NM_007194.4(CHEK2):c.390G>A (p.Leu130=) rs1057522435
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His) rs1555927222
NM_007194.4(CHEK2):c.412A>C (p.Thr138Pro)
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.444+16C>T rs1057522343
NM_007194.4(CHEK2):c.444+18A>G rs753667121
NM_007194.4(CHEK2):c.445-26C>T
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
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.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.488A>G (p.His163Arg) rs752304641
NM_007194.4(CHEK2):c.504C>T (p.Thr168=) rs1057521221
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.54T>C (p.Cys18=) rs1057523962
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr) rs1555926784
NM_007194.4(CHEK2):c.582C>T (p.Ser194=) rs761126328
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+13T>C rs1057521311
NM_007194.4(CHEK2):c.592+39dup
NM_007194.4(CHEK2):c.592+81del rs746878232
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.593-16C>T rs1057523924
NM_007194.4(CHEK2):c.593-20_593-18del rs752590759
NM_007194.4(CHEK2):c.593-9C>G rs1057517597
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val) rs786202416
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu) rs587781563
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala) rs587780187
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile) rs759734429
NM_007194.4(CHEK2):c.615T>G (p.Thr205=) rs1555924498
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) rs907621837
NM_007194.4(CHEK2):c.684-4C>A rs121908695
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr) rs1060502719
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) rs750596640
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val) rs876658690
NM_007194.4(CHEK2):c.776G>A (p.Gly259Asp)
NM_007194.4(CHEK2):c.777T>C (p.Gly259=) rs876659828
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn) rs878854923
NM_007194.4(CHEK2):c.78C>T (p.Thr26=) rs876658717
NM_007194.4(CHEK2):c.792+18G>C rs1385038498
NM_007194.4(CHEK2):c.792+19C>G rs1057522960
NM_007194.4(CHEK2):c.792+27C>T
NM_007194.4(CHEK2):c.792+39C>T
NM_007194.4(CHEK2):c.793-33dup
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu) rs786203778
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro) rs1490781911
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg) rs1490781911
NM_007194.4(CHEK2):c.846+12_846+16del rs1064796169
NM_007194.4(CHEK2):c.846+14T>C
NM_007194.4(CHEK2):c.846+26T>G
NM_007194.4(CHEK2):c.846+35T>C
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.846+9del rs1555920086
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-5C>G rs1555917045
NM_007194.4(CHEK2):c.873T>C (p.Phe291=)
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) rs779607427
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.908+14T>G rs538313507
NM_007194.4(CHEK2):c.908+18T>C rs755416802
NM_007194.4(CHEK2):c.908+19A>G rs759973493
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.908+7A>T rs2052973187
NM_007194.4(CHEK2):c.909-19C>T rs1555915594
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051
NM_007194.4(CHEK2):c.918G>C (p.Gly306=) rs1057523756
NM_007194.4(CHEK2):c.925C>T (p.Leu309=) rs786202521
NM_007194.4(CHEK2):c.942G>A (p.Val314=) rs1057520467
NM_007194.4(CHEK2):c.946A>T (p.Asn316Tyr)
NM_007194.4(CHEK2):c.955C>T (p.Leu319=) rs1057524600
NM_007194.4(CHEK2):c.978C>T (p.Leu326=) rs1057521868
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951

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