ClinVar Miner

List of variants in gene CHEK2 reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 100
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HGVS dbSNP
NM_007194.3(CHEK2):c.1596delC (p.Thr533Glnfs) rs587781519
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) rs587780181
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_007194.3(CHEK2):c.885_887delAGA (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6-2A>G rs1555932985
NM_007194.4(CHEK2):c.-6G>A rs376995740
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.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1260-8A>G rs863224747
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) rs1555913523
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) rs878854915
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His) rs878854915
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.320-5T>A rs121908700
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.335A>G (p.Asn112Ser) rs876660788
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.434G>A (p.Arg145Gln) rs587781667
NM_007194.4(CHEK2):c.444+3A>G rs587781279
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.592+4A>G rs375905418
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) rs775134484
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.847-6T>G rs1555917050
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met) rs767656411
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194

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