ClinVar Miner

List of variants in gene CHEK2 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_007194.4(CHEK2):c.1095+163G>A rs117188004 0.02399
NM_007194.4(CHEK2):c.1462-198C>T rs17883639 0.01796
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_007194.4(CHEK2):c.593-79T>C rs56109140 0.01169
NM_007194.4(CHEK2):c.320-313C>T rs17886564 0.01087
NM_007194.4(CHEK2):c.-6-190C>G rs78988069 0.00906
NM_007194.4(CHEK2):c.319+3774C>T rs189426023 0.00883
NM_007194.4(CHEK2):c.319+179A>G rs144682905 0.00818
NM_007194.4(CHEK2):c.592+279G>C rs142341111 0.00817
NM_007194.4(CHEK2):c.593-287G>T rs147042282 0.00815
NM_007194.4(CHEK2):c.1461+345G>A rs144770665 0.00659
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_007194.4(CHEK2):c.319+4082_319+4086del rs544310054 0.00501
NM_007194.4(CHEK2):c.-7+2358G>A rs188521523 0.00482
NM_007194.4(CHEK2):c.-7+2237A>G rs142648656 0.00479
NM_007194.4(CHEK2):c.319+4077T>C rs540334065 0.00435
NM_007194.4(CHEK2):c.319+4338C>T rs180978510 0.00376
NM_007194.4(CHEK2):c.846+138C>T rs372969631 0.00326
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_007194.4(CHEK2):c.684-432G>A rs17879919 0.00232
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1096-129A>T rs574744424 0.00192
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_007194.4(CHEK2):c.444+24C>T rs121908699 0.00150
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
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.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
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.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
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.1008+8A>G rs139986197 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.150C>T (p.Ser50=) rs967317594 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273 0.00003
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007194.4(CHEK2):c.909-18C>T rs1009670975 0.00003
NM_007194.4(CHEK2):c.*5C>T rs587781367 0.00002
NM_007194.4(CHEK2):c.592+9A>G rs538351542 0.00002
NM_007194.4(CHEK2):c.600C>G (p.Val200=) rs141685349 0.00002
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) rs761681864 0.00001
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) rs1057520268 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101 0.00001
NM_007194.4(CHEK2):c.1375+26T>C rs527418829 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905 0.00001
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=) rs1052262892 0.00001
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) rs202104749 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092 0.00001
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178 0.00001
NM_007194.4(CHEK2):c.445-10T>C rs1060504692 0.00001
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=) rs1555926996 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.792+10A>G rs753836819 0.00001
NM_007194.4(CHEK2):c.-6-3287A>C
NM_007194.4(CHEK2):c.1096-394G>C rs17880511
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr) rs1555913437
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1375+16G>A rs776700371
NM_007194.4(CHEK2):c.1461+163dup rs556335113
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=) rs1346924016
NM_007194.4(CHEK2):c.1543-168G>A rs17881275
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) rs1194893297
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) rs1555932401
NM_007194.4(CHEK2):c.186C>T (p.Ser62=) rs786203025
NM_007194.4(CHEK2):c.195A>C (p.Thr65=) rs1411341011
NM_007194.4(CHEK2):c.195A>G (p.Thr65=) rs1411341011
NM_007194.4(CHEK2):c.204T>C (p.Thr68=) rs1601852195
NM_007194.4(CHEK2):c.319+3674_319+3676dup rs561193294
NM_007194.4(CHEK2):c.411A>C (p.Arg137=) rs1060504695
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) rs137853007
NM_007194.4(CHEK2):c.438T>C (p.Ile146=) rs1601824974
NM_007194.4(CHEK2):c.471T>C (p.Ile157=) rs374170772
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.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-6_593-3del rs2053697275
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) rs750596640
NM_007194.4(CHEK2):c.792+240dup rs17880165
NM_007194.4(CHEK2):c.793-9_793-8del rs1480956379
NM_007194.4(CHEK2):c.845_846+36dup rs1064794357
NM_007194.4(CHEK2):c.847-30_847-11dup rs760398606
NM_007194.4(CHEK2):c.909-292dup rs1188199517

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.