ClinVar Miner

List of variants in gene CHEK2 studied for CHEK2-related cancer predisposition

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Total variants: 58
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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.470T>C (p.Ile157Thr) rs17879961 0.00434
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.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
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.663C>G (p.Ile221Met) rs200451612 0.00027
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.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
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.-44G>C rs886057330 0.00007
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.*59C>T rs540410451 0.00001
NM_007194.4(CHEK2):c.-25C>T rs886057329 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) rs369070738 0.00001
NM_007194.4(CHEK2):c.1260-1G>A rs786201906 0.00001
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu) rs1601852941 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.*26A>G rs1299920296
NM_007194.4(CHEK2):c.*48A>T rs1379211333
NM_007194.4(CHEK2):c.-39C>G rs1014208068
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp) rs1555913161
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys) rs876658872
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln) rs750596499
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) rs779607427

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