ClinVar Miner

List of variants in gene CHEK2 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 46
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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.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
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.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.319+2T>C
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.444+1G>C rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+2T>G
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+2T>A rs1601752066
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589

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