ClinVar Miner

List of variants in gene CHEK2 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 79
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HGVS dbSNP
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479
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.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1135_1136TC[2] (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
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.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
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.1566C>T (p.Pro522=) rs202104749
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.231_245CCAAGAACCTGAGGA[1] (p.77_81DQEPE[1]) rs587780181
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.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) rs750596499
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323
NM_007194.4(CHEK2):c.480_482AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.592+4A>G rs375905418
NM_007194.4(CHEK2):c.592+9A>G rs538351542
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-3del rs1569141052
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.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051

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