ClinVar Miner

List of variants in gene CHEK2 reported by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
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.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
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.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
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.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.-4C>T rs374938148 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.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 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.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) rs531931623 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) rs587780178 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449 0.00004
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) rs773846607 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile) rs548796284 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 0.00002
NM_007194.4(CHEK2):c.432T>C (p.Phe144=) rs876658374 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) rs761681864 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 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.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) rs730881694 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171 0.00001
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092 0.00001
NM_007194.4(CHEK2):c.32A>G (p.Gln11Arg) rs369256181 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.846+5G>A rs764394796 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191 0.00001
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532 0.00001
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr) rs864622371
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1096-10T>C rs1555913946
NM_007194.4(CHEK2):c.1116C>T (p.Ser372=) rs79357544
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys) rs1060502707
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser) rs587782527
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg) rs2052550972
NM_007194.4(CHEK2):c.1260-20CT[3] rs760037989
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg) rs1555913454
NM_007194.4(CHEK2):c.1336A>C (p.Asn446His) rs121908705
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys) rs876660373
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) rs876658456
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) rs1064793511
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys) rs142763740
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=) rs1060504697
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
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.1531del (p.Val511fs) rs2145748375
NM_007194.4(CHEK2):c.1543-14dup rs2145739856
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1569T>G (p.Arg523=) rs748954413
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) rs1194893297
NM_007194.4(CHEK2):c.184T>C (p.Ser62Pro) rs2146148379
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) rs876659006
NM_007194.4(CHEK2):c.272C>A (p.Ala91Asp) rs748559775
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.323G>A (p.Cys108Tyr) rs1555927408
NM_007194.4(CHEK2):c.332A>G (p.Asp111Gly) rs2053966685
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys) rs756949505
NM_007194.4(CHEK2):c.348G>T (p.Gly116=) rs1394601881
NM_007194.4(CHEK2):c.366A>G (p.Glu122=) rs1331351515
NM_007194.4(CHEK2):c.371G>A (p.Cys124Tyr) rs754768271
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.452G>A (p.Gly151Asp) rs1413319082
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.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.489C>T (p.His163=) rs764907556
NM_007194.4(CHEK2):c.521T>C (p.Leu174Pro) rs2146059182
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala) rs1555926862
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+5T>C rs2146056072
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) rs1555926708
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr) rs1060502708
NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu) rs2146004927
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) rs765136136
NM_007194.4(CHEK2):c.72C>A (p.Ser24Arg) rs759679862
NM_007194.4(CHEK2):c.793-7A>G rs1569138057
NM_007194.4(CHEK2):c.846+2T>A rs1601777275
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-7T>C rs1057520267
NM_007194.4(CHEK2):c.885A>G (p.Glu295=) rs1555916935
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) rs587780192
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951

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