ClinVar Miner

List of variants in gene CHEK2 studied for not specified

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP
NM_007194.3(CHEK2):c.-11A>G rs554107994
NM_007194.3(CHEK2):c.-26G>C rs1446969002
NM_007194.3(CHEK2):c.-34A>T rs121908696
NM_007194.3(CHEK2):c.-34_-33delAG rs1555936097
NM_007194.3(CHEK2):c.-7+10A>T rs1057520794
NM_007194.3(CHEK2):c.1008+15C>G rs1555915284
NM_007194.3(CHEK2):c.1110G>A (p.Gly370=) rs1555913920
NM_007194.3(CHEK2):c.1209G>T (p.Gly403=) rs1350419049
NM_007194.3(CHEK2):c.1259+14T>C rs780245762
NM_007194.3(CHEK2):c.1461+18C>T rs1260246390
NM_007194.3(CHEK2):c.1462-18T>C rs1555912108
NM_007194.3(CHEK2):c.1462-20T>G rs747767986
NM_007194.3(CHEK2):c.1543-12_1543-3delCTTTATTTTC rs1555911649
NM_007194.3(CHEK2):c.18T>C (p.Asp6=) rs1555932937
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) rs587780181
NM_007194.3(CHEK2):c.320-7A>G rs1555927424
NM_007194.3(CHEK2):c.444+18A>G rs753667121
NM_007194.3(CHEK2):c.593-11_593-7delTTCTT rs863224414
NM_007194.3(CHEK2):c.593-20_593-18delTCT rs752590759
NM_007194.3(CHEK2):c.615T>G (p.Thr205=) rs1555924498
NM_007194.3(CHEK2):c.792+18G>C rs1385038498
NM_007194.3(CHEK2):c.793-9_793-8delTT rs1480956379
NM_007194.3(CHEK2):c.846+12_846+16delTATAT rs1064796169
NM_007194.3(CHEK2):c.846+4_846+7delAGTA rs764884641
NM_007194.3(CHEK2):c.846+9delT rs1555920086
NM_007194.3(CHEK2):c.908+16T>G rs1198651411
NM_007194.3(CHEK2):c.908+19A>G rs759973493
NM_007194.3(CHEK2):c.909-19C>T rs1555915594
NM_007194.4(CHEK2):c.*16C>T rs1057522648
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*19G>A rs1057523052
NM_007194.4(CHEK2):c.*5C>T rs587781367
NM_007194.4(CHEK2):c.*6G>A rs775315910
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-10dup rs886037743
NM_007194.4(CHEK2):c.-17G>A rs887273410
NM_007194.4(CHEK2):c.-20G>C rs566344661
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.-40G>C rs142541707
NM_007194.4(CHEK2):c.-40G>T rs142541707
NM_007194.4(CHEK2):c.-6-20T>C rs1057523349
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.-7+10A>G rs1057520794
NM_007194.4(CHEK2):c.-7+11T>C rs1057523966
NM_007194.4(CHEK2):c.-7+17dup rs1064795961
NM_007194.4(CHEK2):c.-7+8A>G rs1006865074
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1008+13C>T rs193264230
NM_007194.4(CHEK2):c.1008+8A>G rs139986197
NM_007194.4(CHEK2):c.1009-4G>A rs1057521735
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) rs374660293
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) rs202051128
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688
NM_007194.4(CHEK2):c.105C>T (p.Ser35=) rs1057521541
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) rs572668197
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) rs761681864
NM_007194.4(CHEK2):c.108G>A (p.Gln36=) rs876660021
NM_007194.4(CHEK2):c.1095+8A>G rs1057522814
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1113C>T (p.His371=) rs876659094
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr)
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=) rs79357544
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) rs1057520268
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225
NM_007194.4(CHEK2):c.1259+17T>C rs746109434
NM_007194.4(CHEK2):c.1259+20C>T rs777379343
NM_007194.4(CHEK2):c.1259+7A>G rs1057523752
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1260-10C>G rs730881706
NM_007194.4(CHEK2):c.1260-18C>T rs1057521375
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
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.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=) rs753839004
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His) rs587778194
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924
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.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400
NM_007194.4(CHEK2):c.1461+8T>C rs1057521960
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=) rs898342452
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) rs1057521300
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=) rs1052262892
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) rs1057522770
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.1542+16A>G rs749728970
NM_007194.4(CHEK2):c.1543-20C>G rs551645416
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) rs761278013
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) rs202104749
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=) rs1057521299
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=) rs773670297
NM_007194.4(CHEK2):c.186C>T (p.Ser62=) rs786203025
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171
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.225T>G (p.Pro75=) rs1217608176
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.255T>C (p.Pro85=) rs1418971926
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) rs876660497
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) rs750596499
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092
NM_007194.4(CHEK2):c.319+7C>T rs1057522753
NM_007194.4(CHEK2):c.319+8C>A rs776443322
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178
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.410G>A (p.Arg137Gln) rs368570187
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.432T>C (p.Phe144=) rs876658374
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) rs137853007
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+16C>T rs1057522343
NM_007194.4(CHEK2):c.444+19T>C rs200501745
NM_007194.4(CHEK2):c.444+20G>T rs755989738
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=) rs1555926996
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.471T>C (p.Ile157=) rs374170772
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652
NM_007194.4(CHEK2):c.504C>T (p.Thr168=) rs1057521221
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.54T>C (p.Cys18=) rs1057523962
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267
NM_007194.4(CHEK2):c.582C>T (p.Ser194=) rs761126328
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+13T>C rs1057521311
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.592+9A>G rs538351542
NM_007194.4(CHEK2):c.593-14C>T rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.593-16C>T rs1057523924
NM_007194.4(CHEK2):c.593-9C>G rs1057517597
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724
NM_007194.4(CHEK2):c.600C>G (p.Val200=) rs141685349
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu) rs587781563
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) rs907621837
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612
NM_007194.4(CHEK2):c.683+9T>C rs1060504691
NM_007194.4(CHEK2):c.684-20A>G rs1057520266
NM_007194.4(CHEK2):c.684-6C>T rs776400765
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322
NM_007194.4(CHEK2):c.726A>G (p.Thr242=) rs150150389
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val) rs876658690
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+17G>A rs1057523609
NM_007194.4(CHEK2):c.792+19C>G rs1057522960
NM_007194.4(CHEK2):c.793-17T>C rs778511901
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu) rs786203778
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
NM_007194.4(CHEK2):c.845_846+36dup rs1064794357
NM_007194.4(CHEK2):c.846+12T>C rs1057524077
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007194.4(CHEK2):c.847-14_847-2delCCCCCTCTTCTTAinsGG rs1555917041
NM_007194.4(CHEK2):c.847-17T>C rs199780411
NM_007194.4(CHEK2):c.847-7T>G rs1057520267
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.908+10A>G rs774973319
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>T rs759973493
NM_007194.4(CHEK2):c.909-18C>T rs1009670975
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051
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.953G>A (p.Arg318His) rs143611747
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.990G>A (p.Gln330=) rs9625537
NM_007194.4(CHEK2):c.996C>T (p.Leu332=) rs1053994833
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951

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