ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) rs876659250 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) rs775167943 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.622del (p.Asp208fs) rs773955899 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del
NM_007194.4(CHEK2):c.1004_1005del (p.Val335fs)
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) rs2054330803
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) rs878854908
NM_007194.4(CHEK2):c.1046del (p.Lys349fs)
NM_007194.4(CHEK2):c.1059_1060insA (p.Leu354fs)
NM_007194.4(CHEK2):c.1066dup (p.Ser356fs)
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1077del (p.Glu360fs) rs2145816035
NM_007194.4(CHEK2):c.1100dup (p.Thr367_Asp368insTer)
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1124del (p.Leu375fs)
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) rs1064794965
NM_007194.4(CHEK2):c.1151T>A (p.Leu384Ter)
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) rs587780169
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) rs876658302
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) rs876658302
NM_007194.4(CHEK2):c.1200del (p.Thr401fs)
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs) rs2052553224
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter) rs587781836
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) rs786203031
NM_007194.4(CHEK2):c.1229del (p.Cys410fs)
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) rs1064796572
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer) rs1555913645
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1254dup (p.Ile419fs)
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
NM_007194.4(CHEK2):c.1260_1261del (p.Cys420_Leu421insTer)
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) rs771772104
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter) rs1555913494
NM_007194.4(CHEK2):c.1305dup (p.Leu436fs)
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) rs2145794764
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) rs1555913464
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter) rs1214213337
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter) rs1601719469
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.133del (p.Thr45fs) rs1555932518
NM_007194.4(CHEK2):c.1344del (p.Pro449fs) rs1601719328
NM_007194.4(CHEK2):c.1349_1350del (p.Glu450fs) rs1601719250
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter) rs1601719186
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) rs730881702
NM_007194.4(CHEK2):c.1357del (p.Ala453fs)
NM_007194.4(CHEK2):c.1364del (p.Val455fs)
NM_007194.4(CHEK2):c.1366_1367dup (p.Glu457fs) rs2145792867
NM_007194.4(CHEK2):c.1368del (p.Glu457fs) rs1555913410
NM_007194.4(CHEK2):c.1397T>A (p.Leu466Ter) rs1601716482
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) rs1555913161
NM_007194.4(CHEK2):c.1425del (p.Phe475fs)
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) rs1555913106
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) rs1555913078
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) rs1601715865
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) rs1420382294
NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs) rs1555912060
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.156_166del (p.Ser53fs)
NM_007194.4(CHEK2):c.159_160del (p.His54fs) rs2054324732
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.225del (p.Glu76fs)
NM_007194.4(CHEK2):c.232del (p.Gln78fs) rs1555932344
NM_007194.4(CHEK2):c.233_239del (p.Gln78fs)
NM_007194.4(CHEK2):c.234del (p.Glu79fs)
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
NM_007194.4(CHEK2):c.245_275delinsCT (p.Asp82fs)
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) rs1555932326
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.269del (p.Pro90fs) rs1555932231
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) rs1555932231
NM_007194.4(CHEK2):c.272_278del (p.Ala91fs)
NM_007194.4(CHEK2):c.276del (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) rs786203889
NM_007194.4(CHEK2):c.280del (p.Ala94fs)
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) rs2054312626
NM_007194.4(CHEK2):c.292del (p.Ala98fs) rs1555932116
NM_007194.4(CHEK2):c.295del (p.Leu99fs) rs1601851248
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) rs876659833
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
NM_007194.4(CHEK2):c.319+3A>C rs1569169765
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer) rs2053967484
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
NM_007194.4(CHEK2):c.360del (p.Cys121fs) rs1601825829
NM_007194.4(CHEK2):c.364del (p.Glu122fs) rs786203355
NM_007194.4(CHEK2):c.366del (p.Glu122fs) rs1555927302
NM_007194.4(CHEK2):c.368_369dup (p.Cys124fs)
NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter) rs1555927291
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) rs1275395933
NM_007194.4(CHEK2):c.403A>T (p.Lys135Ter)
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter) rs911826883
NM_007194.4(CHEK2):c.415_422del (p.Tyr139fs)
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs) rs1601824130
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) rs864622453
NM_007194.4(CHEK2):c.482_486delinsTGG (p.Glu161fs)
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) rs1601823546
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
NM_007194.4(CHEK2):c.557del (p.Asn186fs) rs2146057730
NM_007194.4(CHEK2):c.568_569insACCTTTGAATAACAATTCTGAAATTG (p.Ala190delinsAspLeuTer) rs1601823036
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter) rs1555932877
NM_007194.4(CHEK2):c.570del (p.Leu191fs)
NM_007194.4(CHEK2):c.571_572del (p.Leu191fs)
NM_007194.4(CHEK2):c.581del (p.Ser194fs) rs587780186
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+1G>A rs1601822722
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) rs1555926708
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer) rs886039609
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter) rs767253467
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.64del (p.His22fs) rs2054335480
NM_007194.4(CHEK2):c.655_659del (p.Glu219fs) rs2053691493
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.656_666del (p.Glu219fs)
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
NM_007194.4(CHEK2):c.670A>T (p.Lys224Ter)
NM_007194.4(CHEK2):c.673del (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.684-1582_846+1965dup
NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs) rs1555921327
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) rs753972711
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs) rs2146157133
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) rs1601783879
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.730A>T (p.Lys244Ter)
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter) rs1601783375
NM_007194.4(CHEK2):c.746del (p.Lys249fs)
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.762dup (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.76delinsCT (p.Thr26fs)
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) rs2053407842
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) rs2145948828
NM_007194.4(CHEK2):c.792del (p.Asp265fs)
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) rs376736188
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.4(CHEK2):c.856del (p.Ile286fs)
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.864del (p.Asn290fs)
NM_007194.4(CHEK2):c.866_869del (p.Lys289fs)
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs) rs1555932735
NM_007194.4(CHEK2):c.870del (p.Phe292fs) rs1555916987
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) rs772683219
NM_007194.4(CHEK2):c.876del (p.Phe292fs) rs772683219
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) rs772683219
NM_007194.4(CHEK2):c.879del (p.Asp293fs) rs1555916968
NM_007194.4(CHEK2):c.883G>T (p.Glu295Ter)
NM_007194.4(CHEK2):c.892del (p.Tyr298fs) rs2145877300
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) rs1390889028
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.945dup (p.Asn316fs) rs2052765649
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.953del (p.Arg318fs)
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.963del (p.Ala322fs) rs2052762437
NM_007194.4(CHEK2):c.966_972dup (p.Lys325fs) rs1601738571
NM_007194.4(CHEK2):c.974del (p.Lys325fs) rs1555915409
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) rs1569121048
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)

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