ClinVar Miner

List of variants in gene CHEK2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NC_000022.10:g.(?_29091105)_(29108015_?)dup
NC_000022.10:g.(?_29095816)_(29095935_?)dup
NC_000022.10:g.(?_29095816)_(29099564_?)del
NC_000022.10:g.(?_29099483)_(29099564_?)dup
NC_000022.10:g.(?_29099483)_(29115483_?)dup
NC_000022.10:g.(?_29099493)_(29099554_?)dup
NC_000022.10:g.(?_29105984)_(29115483_?)dup
NC_000022.10:g.(?_29105988)_(29106053_?)del
NC_000022.10:g.(?_29105988)_(29108011_?)dup
NC_000022.10:g.(?_29120157)_(29121086_?)del
NC_000022.10:g.(?_29120955)_(29121365_?)dup
NC_000022.11:g.(?_28687743)_(28687986_?)del
NC_000022.11:g.(?_28687887)_(28687996_?)del
NC_000022.11:g.(?_28687891)_(28689221_?)del
NC_000022.11:g.(?_28689125)_(28696997_?)del
NC_000022.11:g.(?_28689129)_(28696993_?)del
NC_000022.11:g.(?_28699838)_(28703566_?)del
NC_000022.11:g.(?_28709996)_(28710069_?)del
NC_000022.11:g.(?_28709996)_(28712027_?)dup
NC_000022.11:g.(?_28709996)_(28725377_?)dup
NC_000022.11:g.(?_28719385)_(28725377_?)dup
NM_007194.3(CHEK2):c.320-?_592+?dup273
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>C rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-1G>A rs1555914382
NM_007194.4(CHEK2):c.1009-2A>C rs766158073
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1009-2A>T rs766158073
NM_007194.4(CHEK2):c.1009-2_1011del
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+1G>C
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1095+2T>A rs1569115687
NM_007194.4(CHEK2):c.1095+2T>C rs1569115687
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1096-1G>T rs1060502716
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
NM_007194.4(CHEK2):c.1096-2A>C
NM_007194.4(CHEK2):c.1096-2A>G rs2145807398
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1259+1G>T rs121908707
NM_007194.4(CHEK2):c.1259+2T>C rs1555913631
NM_007194.4(CHEK2):c.1259+2del rs1555913632
NM_007194.4(CHEK2):c.1260-24_1263del rs1601720308
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1375+1G>C rs759706360
NM_007194.4(CHEK2):c.1375+1G>T
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1375+2T>C rs1483241325
NM_007194.4(CHEK2):c.1375+2T>G
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>C rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1461+2del rs1601715755
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1462-2del
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs) rs2145748708
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs) rs2145748685
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs) rs2052240942
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer) rs2145748275
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1540del (p.Gln514fs) rs2145748046
NM_007194.4(CHEK2):c.1543-1G>A rs2052190289
NM_007194.4(CHEK2):c.1543-1G>C rs2052190289
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1543-2A>G
NM_007194.4(CHEK2):c.1544del (p.Pro515fs) rs1555911640
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.319+1G>C rs765080766
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+2T>C
NM_007194.4(CHEK2):c.319+2T>G rs587782401
NM_007194.4(CHEK2):c.320-1G>C rs864622613
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-2A>G rs1336652138
NM_007194.4(CHEK2):c.320-2del
NM_007194.4(CHEK2):c.444_444+1del rs1064793780
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.445-2A>T
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.469_592+808del rs2053903140
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.592+1G>A rs1601822722
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.593-2A>C
NM_007194.4(CHEK2):c.593-2A>G rs2146007633
NM_007194.4(CHEK2):c.593-2A>T
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>A rs781021132
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.683+2T>G
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.684-1G>C rs1298667185
NM_007194.4(CHEK2):c.684-1del rs2145953393
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.684-2A>T rs2053419665
NM_007194.4(CHEK2):c.684-3_684-2del
NM_007194.4(CHEK2):c.684-5_684-2delinsC rs2053419709
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+2T>A rs545982789
NM_007194.4(CHEK2):c.792+2T>G rs545982789
NM_007194.4(CHEK2):c.792+2_792+17del
NM_007194.4(CHEK2):c.792_792+1del rs774831804
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+2T>A rs1601777275
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+2T>G
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.847-1G>T
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.847-2A>T
NM_007194.4(CHEK2):c.847-2_857del rs2145878627
NM_007194.4(CHEK2):c.891_908+3del rs2145876703
NM_007194.4(CHEK2):c.903_908+26del rs2145876249
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>C rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.909-1G>T rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589

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