ClinVar Miner

List of variants in gene CHEK2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 96
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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.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.793-11G>A rs5997387 0.00054
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.319+3966G>A rs137926355 0.00040
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
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.1283C>T (p.Ser428Phe) rs137853011 0.00026
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.349A>G (p.Arg117Gly) rs28909982 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.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.319+3865T>C rs964218389 0.00006
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.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449 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.1567C>T (p.Arg523Cys) rs149501505 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.953G>A (p.Arg318His) rs143611747 0.00003
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.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007194.4(CHEK2):c.1035C>T (p.His345=) rs756520206 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) rs145324174 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg) rs529571124 0.00001
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 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.911T>C (p.Met304Thr) rs587782033 0.00001
NM_007194.4(CHEK2):c.997T>C (p.Leu333=) rs1352758126 0.00001
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
NM_007194.4(CHEK2):c.1032A>C (p.Ile344=) rs202051128
NM_007194.4(CHEK2):c.1183G>A (p.Val395Ile) rs587780170
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.134C>G (p.Thr45Arg) rs558321010
NM_007194.4(CHEK2):c.1375+16G>A rs776700371
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala) rs763344790
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile) rs762488591
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) rs730881694
NM_007194.4(CHEK2):c.1550C>T (p.Thr517Ile) rs1555911629
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.276C>G (p.Pro92=) rs1478388236
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) rs876660497
NM_007194.4(CHEK2):c.319+3854G>C
NM_007194.4(CHEK2):c.319+3963C>G
NM_007194.4(CHEK2):c.319+3966G>T
NM_007194.4(CHEK2):c.319+3987T>C
NM_007194.4(CHEK2):c.319+3991G>A
NM_007194.4(CHEK2):c.325G>A (p.Val109Met) rs1569159114
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly) rs1404473412
NM_007194.4(CHEK2):c.444+10G>T
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+54G>T
NM_007194.4(CHEK2):c.592+94G>A
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) rs1555926708
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) rs1601777776
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile) rs2052980010
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu) rs587780192

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