ClinVar Miner

List of variants in gene CHEK2 reported by Mendelics

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Gene type:
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Total variants: 98
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HGVS dbSNP
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-7+4A>G rs1601377191
NM_007194.4(CHEK2):c.-9G>C rs1489154308
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly) rs1601853229
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
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.1290T>C (p.His430=) rs373864492
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) rs876660046
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs) rs1569111699
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) rs1555913188
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile) rs876660873
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) rs764396738
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.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) rs1060502682
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) rs373959274
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser) rs149501505
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) rs876658140
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.319+3851G>T rs1601841500
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.319+3966G>A rs137926355
NM_007194.4(CHEK2):c.319+3980C>T rs1045958480
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) rs878854919
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr) rs1569159072
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys) rs1060502689
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg) rs1569158689
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+9T>C rs1437978013
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) rs876659950
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
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.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.592+50A>C rs17881298
NM_007194.4(CHEK2):c.592+50A>T rs17881298
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.593-2089T>C rs1012399282
NM_007194.4(CHEK2):c.593-2151A>T rs1411302770
NM_007194.4(CHEK2):c.593-2162_593-2156dup rs199835095
NM_007194.4(CHEK2):c.593-55G>A rs17879915
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val) rs779322187
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196
NM_007194.4(CHEK2):c.846+1G>C rs864622149
NM_007194.4(CHEK2):c.847-3T>G rs1159089063
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser) rs1555932749
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007194.4(CHEK2):c.941del (p.Val314fs) rs1601738999
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951
NM_145862.2(CHEK2):c.-70A>T rs1264820873

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