ClinVar Miner

List of variants in gene CHEK2 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
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.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_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.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.1283C>T (p.Ser428Phe) rs137853011 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.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.1217G>A (p.Arg406His) rs200649225 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_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.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
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.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.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.*2dup rs749257861 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.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 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.847-10C>G rs745745105 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.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 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.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 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.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 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.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 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.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) rs202051128 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) rs572668197 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 0.00001
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr) rs758206293 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 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.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905 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.1566C>T (p.Pro522=) rs202104749 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) rs864622684 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.350G>A (p.Arg117Lys) rs587781982 0.00001
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 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.497A>G (p.Asn166Ser) rs587782413 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) rs786203483 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.59A>G (p.Gln20Arg) rs753257724 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.792+10A>G rs753836819 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_007194.3:c.-72_1632del
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala) rs876659406
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1085_1088del (p.Cys362fs)
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val) rs1555913720
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.1219G>C (p.Ala407Pro)
NM_007194.4(CHEK2):c.1225G>T (p.Asp409Tyr) rs766191039
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) rs760118917
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.126T>A (p.Ser42=) rs1601853112
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg) rs878854914
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His) rs876658449
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
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.1542G>C (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) rs1194893297
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) rs1555932401
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
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.195A>C (p.Thr65=) rs1411341011
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys) rs1601852018
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>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) rs750596499
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.423del (p.Lys142fs) rs2053957486
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys) rs1060502718
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) rs587780187
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.655G>C (p.Glu219Gln) rs1601805632
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His) rs1555924429
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly) rs745475247
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-3del rs1569141052
NM_007194.4(CHEK2):c.684-7C>T rs745408471
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp) rs878854921
NM_007194.4(CHEK2):c.792+7A>T rs1601782720
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser) rs1555917036
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala) rs932236548
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser) rs876659870
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051
NM_007194.4(CHEK2):c.931G>C (p.Asp311His) rs587782347
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163

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