ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
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.*18C>T rs17884403 0.00037
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
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.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 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.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.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 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.1023C>T (p.Asn341=) rs377668478 0.00006
NM_007194.4(CHEK2):c.319+3865T>C rs964218389 0.00006
NM_007194.4(CHEK2):c.320-16T>C rs773890954 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) rs531931623 0.00005
NM_007194.4(CHEK2):c.633T>C (p.Val211=) rs1555924460 0.00005
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
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.150C>T (p.Ser50=) rs967317594 0.00004
NM_007194.4(CHEK2):c.1543-20C>G rs551645416 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.908+19A>T rs759973493 0.00004
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1259+14T>A rs780245762 0.00003
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=) rs753839004 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) rs761278013 0.00003
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=) rs773670297 0.00003
NM_007194.4(CHEK2):c.444+20G>T rs755989738 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.1203T>C (p.Thr401=) rs560781587 0.00002
NM_007194.4(CHEK2):c.1259+17T>C rs746109434 0.00002
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.432T>C (p.Phe144=) rs876658374 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.660C>T (p.Tyr220=) rs876659987 0.00002
NM_007194.4(CHEK2):c.684-20A>G rs1057520266 0.00002
NM_007194.4(CHEK2):c.684-6C>T rs776400765 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_007194.4(CHEK2):c.*6G>A rs775315910 0.00001
NM_007194.4(CHEK2):c.1009-20A>G rs946179247 0.00001
NM_007194.4(CHEK2):c.1035C>T (p.His345=) rs756520206 0.00001
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) rs572668197 0.00001
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) rs761681864 0.00001
NM_007194.4(CHEK2):c.1095+8A>G rs1057522814 0.00001
NM_007194.4(CHEK2):c.1096-16T>C rs1377212608 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 0.00001
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) rs1057520268 0.00001
NM_007194.4(CHEK2):c.1260-18C>T rs1057521375 0.00001
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=) rs781514295 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.1376-12T>C rs876660970 0.00001
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=) rs876659337 0.00001
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=) rs864622382 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400 0.00001
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=) rs1052262892 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.1542+6C>T rs1414780425 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.189A>G (p.Leu63=) rs761028062 0.00001
NM_007194.4(CHEK2):c.225T>G (p.Pro75=) rs1217608176 0.00001
NM_007194.4(CHEK2):c.255T>C (p.Pro85=) rs1418971926 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.384A>G (p.Pro128=) rs766409666 0.00001
NM_007194.4(CHEK2):c.445-10T>C rs1060504692 0.00001
NM_007194.4(CHEK2):c.445-14G>A rs2053950383 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.592+18T>C rs1206497698 0.00001
NM_007194.4(CHEK2):c.645A>G (p.Ala215=) rs761630560 0.00001
NM_007194.4(CHEK2):c.683+10T>C rs747427230 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007194.4(CHEK2):c.708G>C (p.Leu236=) rs1359839685 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.717G>A (p.Glu239=) rs1555921253 0.00001
NM_007194.4(CHEK2):c.726A>G (p.Thr242=) rs150150389 0.00001
NM_007194.4(CHEK2):c.729T>C (p.Cys243=) rs770565516 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.792+11A>G rs765935437 0.00001
NM_007194.4(CHEK2):c.792+17G>A rs1057523609 0.00001
NM_007194.4(CHEK2):c.846+7A>G rs763340730 0.00001
NM_007194.4(CHEK2):c.908+10A>G rs774973319 0.00001
NM_007194.4(CHEK2):c.908+16T>G rs1198651411 0.00001
NM_007194.4(CHEK2):c.908+18T>A rs755416802 0.00001
NM_007194.4(CHEK2):c.996C>T (p.Leu332=) rs1053994833 0.00001
NM_007194.4(CHEK2):c.997T>C (p.Leu333=) rs1352758126 0.00001
NM_007194.4(CHEK2):c.*16C>T rs1057522648
NM_007194.4(CHEK2):c.*2C>A
NM_007194.4(CHEK2):c.-6-8T>G rs1555932995
NM_007194.4(CHEK2):c.1008+15C>G rs1555915284
NM_007194.4(CHEK2):c.1009-14G>C rs1172442364
NM_007194.4(CHEK2):c.1009-16C>A rs751749563
NM_007194.4(CHEK2):c.1009-18G>A rs757393834
NM_007194.4(CHEK2):c.1095+11G>A rs2052604253
NM_007194.4(CHEK2):c.1095+19G>C rs200020484
NM_007194.4(CHEK2):c.1096-10T>C rs1555913946
NM_007194.4(CHEK2):c.1113C>T (p.His371=) rs876659094
NM_007194.4(CHEK2):c.1123T>C (p.Leu375=) rs2052563996
NM_007194.4(CHEK2):c.1149C>G (p.Thr383=) rs1555913842
NM_007194.4(CHEK2):c.1161C>G (p.Thr387=) rs1601722925
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=) rs878854911
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=) rs1350419049
NM_007194.4(CHEK2):c.120C>T (p.Ser40=)
NM_007194.4(CHEK2):c.1218T>G (p.Arg406=) rs2052553322
NM_007194.4(CHEK2):c.1259+14T>C rs780245762
NM_007194.4(CHEK2):c.1259+16A>G rs756361647
NM_007194.4(CHEK2):c.1259+20C>T rs777379343
NM_007194.4(CHEK2):c.1260-12A>G
NM_007194.4(CHEK2):c.1260-18C>G rs1057521375
NM_007194.4(CHEK2):c.1260-20CT[3] rs760037989
NM_007194.4(CHEK2):c.1260-6A>G rs767735261
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=) rs1257494163
NM_007194.4(CHEK2):c.12G>A (p.Glu4=) rs1213043094
NM_007194.4(CHEK2):c.1359A>G (p.Ala453=) rs1555913419
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1375+17G>A rs1257877166
NM_007194.4(CHEK2):c.1375+17del rs1191159078
NM_007194.4(CHEK2):c.1375+20A>G rs2052510448
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=) rs786201296
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=) rs764396738
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=) rs1060504697
NM_007194.4(CHEK2):c.1431A>C (p.Thr477=) rs2052468226
NM_007194.4(CHEK2):c.1461+3G>A rs1555913067
NM_007194.4(CHEK2):c.1461+8T>C rs1057521960
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) rs1057521300
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) rs1060502721
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=) rs1555912021
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1542+11T>C rs17881716
NM_007194.4(CHEK2):c.1542+7G>A rs4035547
NM_007194.4(CHEK2):c.1543-10T>C rs1555911654
NM_007194.4(CHEK2):c.1543-12C>G rs1555911657
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=) rs748954413
NM_007194.4(CHEK2):c.156C>G (p.Ser52=) rs1555932466
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=) rs1569102099
NM_007194.4(CHEK2):c.1614G>C (p.Val538=)
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) rs1194893297
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=) rs773670297
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) rs1555932401
NM_007194.4(CHEK2):c.180G>A (p.Leu60=) rs2146148626
NM_007194.4(CHEK2):c.186C>T (p.Ser62=) rs786203025
NM_007194.4(CHEK2):c.18T>C (p.Asp6=) rs1555932937
NM_007194.4(CHEK2):c.213C>G (p.Leu71=) rs1057524667
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.240T>G (p.Pro80=) rs878854918
NM_007194.4(CHEK2):c.243G>A (p.Glu81=) rs1060504690
NM_007194.4(CHEK2):c.249A>G (p.Gln83=) rs776271158
NM_007194.4(CHEK2):c.267C>G (p.Thr89=) rs1601851707
NM_007194.4(CHEK2):c.267C>T (p.Thr89=) rs1601851707
NM_007194.4(CHEK2):c.276C>G (p.Pro92=) rs1478388236
NM_007194.4(CHEK2):c.319+16G>A rs2054308633
NM_007194.4(CHEK2):c.319+17T>C rs770423802
NM_007194.4(CHEK2):c.319+6A>G rs1555931991
NM_007194.4(CHEK2):c.319+7C>T rs1057522753
NM_007194.4(CHEK2):c.319+8C>G rs776443322
NM_007194.4(CHEK2):c.320-18C>T rs2053968934
NM_007194.4(CHEK2):c.320-3C>T
NM_007194.4(CHEK2):c.320-7A>C rs1555927424
NM_007194.4(CHEK2):c.320-7A>G rs1555927424
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=) rs905674348
NM_007194.4(CHEK2):c.351G>A (p.Arg117=) rs2053964612
NM_007194.4(CHEK2):c.388C>T (p.Leu130=) rs1057522274
NM_007194.4(CHEK2):c.414A>G (p.Thr138=) rs876658162
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) rs137853007
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.531A>G (p.Lys177=)
NM_007194.4(CHEK2):c.567T>C (p.Ile189=) rs1601823046
NM_007194.4(CHEK2):c.570A>T (p.Ala190=) rs754689169
NM_007194.4(CHEK2):c.579A>G (p.Leu193=) rs1569157233
NM_007194.4(CHEK2):c.592+11T>G rs1555926700
NM_007194.4(CHEK2):c.592+12_592+13del rs1555926694
NM_007194.4(CHEK2):c.592+16T>G rs1555926688
NM_007194.4(CHEK2):c.592+17A>G rs2053934609
NM_007194.4(CHEK2):c.592+19G>T rs1569157121
NM_007194.4(CHEK2):c.592+5TAT[2] rs1555926697
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.593-18T>C rs1569150284
NM_007194.4(CHEK2):c.593-20T>G rs1555924584
NM_007194.4(CHEK2):c.593-20_593-18del rs752590759
NM_007194.4(CHEK2):c.593-7T>A rs1555924549
NM_007194.4(CHEK2):c.615T>G (p.Thr205=) rs1555924498
NM_007194.4(CHEK2):c.642G>A (p.Lys214=) rs1569149867
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) rs907621837
NM_007194.4(CHEK2):c.683+15T>G rs1569149564
NM_007194.4(CHEK2):c.683+17T>C rs2053688522
NM_007194.4(CHEK2):c.684-10T>C rs1601784458
NM_007194.4(CHEK2):c.684-11T>G rs1392495288
NM_007194.4(CHEK2):c.684-14G>C rs1555921411
NM_007194.4(CHEK2):c.684-16T>C rs1056041546
NM_007194.4(CHEK2):c.684-3T>C rs1555921387
NM_007194.4(CHEK2):c.684-7C>T rs745408471
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.690C>G (p.Ala230=) rs1569140952
NM_007194.4(CHEK2):c.699G>A (p.Glu233=) rs1555921308
NM_007194.4(CHEK2):c.705G>A (p.Lys235=) rs1555921297
NM_007194.4(CHEK2):c.72C>T (p.Ser24=) rs759679862
NM_007194.4(CHEK2):c.738A>T (p.Val246=) rs1555921163
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) rs750596640
NM_007194.4(CHEK2):c.777T>C (p.Gly259=) rs876659828
NM_007194.4(CHEK2):c.793-12T>C rs1555920271
NM_007194.4(CHEK2):c.793-13C>T rs1555920274
NM_007194.4(CHEK2):c.793-17T>G rs778511901
NM_007194.4(CHEK2):c.846+15_846+16del rs775989721
NM_007194.4(CHEK2):c.846+6TAT[2] rs1555920076
NM_007194.4(CHEK2):c.846+8T>C rs1601777172
NM_007194.4(CHEK2):c.846T>C (p.His282=) rs987815892
NM_007194.4(CHEK2):c.847-15_847-14insGG rs1555917068
NM_007194.4(CHEK2):c.847-30_847-11dup rs760398606
NM_007194.4(CHEK2):c.847-33_847-14del rs1569128594
NM_007194.4(CHEK2):c.87A>G (p.Gln29=) rs951525447
NM_007194.4(CHEK2):c.885A>G (p.Glu295=) rs1555916935
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.908+11A>T rs1555916864
NM_007194.4(CHEK2):c.908+14T>G rs538313507
NM_007194.4(CHEK2):c.908+16T>C rs1198651411
NM_007194.4(CHEK2):c.908+17T>G rs2052972175
NM_007194.4(CHEK2):c.908+18del rs778668907
NM_007194.4(CHEK2):c.909-15G>A rs2145845569
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_007194.4(CHEK2):c.909-8T>C rs1569121935
NM_007194.4(CHEK2):c.918G>C (p.Gly306=) rs1057523756
NM_007194.4(CHEK2):c.942G>T (p.Val314=) rs1057520467
NM_007194.4(CHEK2):c.945G>T (p.Gly315=) rs876659711
NM_007194.4(CHEK2):c.978C>T (p.Leu326=) rs1057521868
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951

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