ClinVar Miner

List of variants studied for CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
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.1111C>T (p.His371Tyr) rs531398630 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
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.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00003
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) rs1060502702 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro) rs1182200321 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1462-12A>G rs1339529482 0.00001
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 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.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532 0.00001
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193 0.00001
NM_007194.4(CHEK2):c.1006del (p.Gln336fs)
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.132C>A (p.Ser44Arg)
NM_007194.4(CHEK2):c.134C>A (p.Thr45Lys)
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu) rs763344790
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1501G>C (p.Glu501Gln)
NM_007194.4(CHEK2):c.1518del (p.Ala507fs)
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.319+5G>T rs730881698
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) rs369256181
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.593-2A>C rs2146007633
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys) rs745475247
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) rs730881685
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val) rs878854921
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.844C>G (p.His282Asp) rs774068238
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.866A>T (p.Lys289Ile) rs1555916997
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) rs587780192

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