ClinVar Miner

List of variants in gene CHEK2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
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.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.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.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.-10dup rs886037743 0.00004
NM_007194.4(CHEK2):c.1008+8A>G rs139986197 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.-17G>A rs887273410 0.00003
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=) rs753839004 0.00003
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) rs761278013 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.909-18C>T rs1009670975 0.00003
NM_007194.4(CHEK2):c.*5C>T rs587781367 0.00002
NM_007194.4(CHEK2):c.-11A>G rs554107994 0.00002
NM_007194.4(CHEK2):c.1259+17T>C rs746109434 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.684-20A>G rs1057520266 0.00002
NM_007194.4(CHEK2):c.684-6C>T rs776400765 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_007194.4(CHEK2):c.*19G>A rs1057523052 0.00001
NM_007194.4(CHEK2):c.*6G>A rs775315910 0.00001
NM_007194.4(CHEK2):c.-20G>C rs566344661 0.00001
NM_007194.4(CHEK2):c.-34A>T rs121908696 0.00001
NM_007194.4(CHEK2):c.-6-20T>C rs1057523349 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.1197T>C (p.Val399=) rs1057520268 0.00001
NM_007194.4(CHEK2):c.1260-18C>T rs1057521375 0.00001
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1461+18C>T rs1260246390 0.00001
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400 0.00001
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=) rs898342452 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.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 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.445-10T>C rs1060504692 0.00001
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=) rs1555926996 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.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.726A>G (p.Thr242=) rs150150389 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.792+17G>A rs1057523609 0.00001
NM_007194.4(CHEK2):c.846+12T>C rs1057524077 0.00001
NM_007194.4(CHEK2):c.847-7T>G rs1057520267 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.990G>A (p.Gln330=) rs9625537 0.00001
NM_007194.4(CHEK2):c.996C>T (p.Leu332=) rs1053994833 0.00001
NM_007194.4(CHEK2):c.*16C>T rs1057522648
NM_007194.4(CHEK2):c.-26G>C rs1446969002
NM_007194.4(CHEK2):c.-27G>A rs1057522353
NM_007194.4(CHEK2):c.-28C>A rs1057520952
NM_007194.4(CHEK2):c.-28C>T rs1057520952
NM_007194.4(CHEK2):c.-32T>C rs536566373
NM_007194.4(CHEK2):c.-36AG[1] rs1555936097
NM_007194.4(CHEK2):c.-40G>C rs142541707
NM_007194.4(CHEK2):c.1008+15C>G rs1555915284
NM_007194.4(CHEK2):c.1009-4G>A rs1057521735
NM_007194.4(CHEK2):c.105C>T (p.Ser35=) rs1057521541
NM_007194.4(CHEK2):c.108G>A (p.Gln36=) rs876660021
NM_007194.4(CHEK2):c.1096-394G>C rs17880511
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=) rs1555913920
NM_007194.4(CHEK2):c.1113C>T (p.His371=) rs876659094
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=) rs79357544
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=) rs1350419049
NM_007194.4(CHEK2):c.1259+14T>C rs780245762
NM_007194.4(CHEK2):c.1259+20C>T rs777379343
NM_007194.4(CHEK2):c.1259+7A>G rs1057523752
NM_007194.4(CHEK2):c.1299A>G (p.Gln433=) rs1057523319
NM_007194.4(CHEK2):c.129C>T (p.Thr43=) rs786202779
NM_007194.4(CHEK2):c.1302G>A (p.Val434=) rs1060504693
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=) rs1057520523
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=) rs1057523229
NM_007194.4(CHEK2):c.1375+15G>T rs1057521502
NM_007194.4(CHEK2):c.1375+8T>A rs1057522436
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1461+163dup rs556335113
NM_007194.4(CHEK2):c.1461+8T>C rs1057521960
NM_007194.4(CHEK2):c.1462-18T>C rs1555912108
NM_007194.4(CHEK2):c.1462-20T>G rs747767986
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) rs1057521300
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) rs1057522770
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=) rs1346924016
NM_007194.4(CHEK2):c.1542+16A>G rs749728970
NM_007194.4(CHEK2):c.1543-12_1543-3del rs1555911649
NM_007194.4(CHEK2):c.1543-168G>A rs17881275
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=) rs1057521299
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.204T>C (p.Thr68=) rs1601852195
NM_007194.4(CHEK2):c.213C>G (p.Leu71=) rs1057524667
NM_007194.4(CHEK2):c.222T>C (p.Ile74=) rs876659629
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) rs876660497
NM_007194.4(CHEK2):c.319+3674_319+3676dup rs561193294
NM_007194.4(CHEK2):c.319+7C>T rs1057522753
NM_007194.4(CHEK2):c.319+8C>A rs776443322
NM_007194.4(CHEK2):c.320-7A>G rs1555927424
NM_007194.4(CHEK2):c.388C>T (p.Leu130=) rs1057522274
NM_007194.4(CHEK2):c.390G>A (p.Leu130=) rs1057522435
NM_007194.4(CHEK2):c.411A>C (p.Arg137=) rs1060504695
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.438T>C (p.Ile146=) rs1601824974
NM_007194.4(CHEK2):c.444+16C>T rs1057522343
NM_007194.4(CHEK2):c.444+18A>G rs753667121
NM_007194.4(CHEK2):c.471T>C (p.Ile157=) rs374170772
NM_007194.4(CHEK2):c.504C>T (p.Thr168=) rs1057521221
NM_007194.4(CHEK2):c.54T>C (p.Cys18=) rs1057523962
NM_007194.4(CHEK2):c.582C>T (p.Ser194=) rs761126328
NM_007194.4(CHEK2):c.592+13T>C rs1057521311
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.593-16C>T rs1057523924
NM_007194.4(CHEK2):c.593-20_593-18del rs752590759
NM_007194.4(CHEK2):c.593-6_593-3del rs2053697275
NM_007194.4(CHEK2):c.593-9C>G rs1057517597
NM_007194.4(CHEK2):c.615T>G (p.Thr205=) rs1555924498
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) rs907621837
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.78C>T (p.Thr26=) rs876658717
NM_007194.4(CHEK2):c.792+18G>C rs1385038498
NM_007194.4(CHEK2):c.792+19C>G rs1057522960
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.846+12_846+16del rs1064796169
NM_007194.4(CHEK2):c.846+9del rs1555920086
NM_007194.4(CHEK2):c.847-30_847-11dup rs760398606
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.908+14T>G rs538313507
NM_007194.4(CHEK2):c.908+18T>C rs755416802
NM_007194.4(CHEK2):c.908+19A>G rs759973493
NM_007194.4(CHEK2):c.909-19C>T rs1555915594
NM_007194.4(CHEK2):c.909-292dup rs1188199517
NM_007194.4(CHEK2):c.918G>C (p.Gly306=) rs1057523756
NM_007194.4(CHEK2):c.925C>T (p.Leu309=) rs786202521
NM_007194.4(CHEK2):c.942G>A (p.Val314=) rs1057520467
NM_007194.4(CHEK2):c.955C>T (p.Leu319=) rs1057524600
NM_007194.4(CHEK2):c.978C>T (p.Leu326=) rs1057521868
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951

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