ClinVar Miner

List of variants in gene CHEK2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.319+4206T>C rs12627843 0.99991
NM_007194.4(CHEK2):c.1095+250T>C rs5752771 0.99947
NM_007194.4(CHEK2):c.319+4177C>T rs12171198 0.99748
NM_007194.4(CHEK2):c.1009-264T>C rs4820790 0.98450
NC_000022.11:g.28741956G>C rs2236142 0.67002
NM_007194.4(CHEK2):c.684-224T>C rs5752776 0.63427
NM_007194.4(CHEK2):c.1375+78C>G rs5762749 0.59838
NM_007194.4(CHEK2):c.1376-258C>T rs5762747 0.39026
NM_007194.4(CHEK2):c.847-200A>G rs2267130 0.35241
NM_007194.4(CHEK2):c.319+91G>A rs1033667 0.30095
NM_007194.4(CHEK2):c.1375+347T>G rs12165489 0.12169
NM_007194.4(CHEK2):c.-7+2398dup rs113960351 0.11014
NC_000022.11:g.28741882C>T rs2236141 0.09783
NM_007194.4(CHEK2):c.592+168T>C rs3788408 0.08398
NM_007194.4(CHEK2):c.-7+2214C>T rs5997390 0.08338
NM_007194.4(CHEK2):c.1096-320G>A rs17507045 0.07711
NM_007194.4(CHEK2):c.1095+169G>A rs17507066 0.06878
NM_007194.4(CHEK2):c.1375+225C>T rs5762748 0.06152
NM_007194.4(CHEK2):c.319+3621G>A rs112976408 0.05307
NM_007194.4(CHEK2):c.793-127T>C rs9625541 0.04460
NM_007194.4(CHEK2):c.684-107T>G rs16986640 0.04453
NM_007194.4(CHEK2):c.1543-411C>T rs139467994 0.04205
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_007194.4(CHEK2):c.792+325C>G rs56924042 0.02681
NM_007194.4(CHEK2):c.1543-192A>G rs17880568 0.02143
NM_007194.4(CHEK2):c.-7+286A>T rs17879734 0.02131
NM_007194.4(CHEK2):c.793-302T>A rs17881138 0.02002
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.593-14C>T rs145754558 0.00235
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_007194.4(CHEK2):c.-40G>T rs142541707 0.00155
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=) rs938389349 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007194.4(CHEK2):c.-6-111dup rs201340887
NM_007194.4(CHEK2):c.-6-99del rs201340887
NM_007194.4(CHEK2):c.1008+191del rs17885956
NM_007194.4(CHEK2):c.1376-376C>G rs6005837
NM_007194.4(CHEK2):c.1462-97_1462-96insC rs2145752240
NM_007194.4(CHEK2):c.319+39dup rs3841692
NM_007194.4(CHEK2):c.319+4038_319+4043del rs200932714
NM_007194.4(CHEK2):c.319+4426= rs7510706
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.592+5TAT[2] rs1555926697
NM_007194.4(CHEK2):c.684-100_684-78dup rs17881244
NM_007194.4(CHEK2):c.908+18del rs778668907

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