ClinVar Miner

List of variants in gene CHEK2 reported by GeneKor MSA

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Total variants: 32
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HGVS dbSNP
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val) rs1569112074
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) rs1064793511
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys) rs142763740
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1461+2T>C
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) rs1057522770
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val) rs1569101970
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.434G>C (p.Arg145Pro)
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190
NM_007194.4(CHEK2):c.911T>A (p.Met304Lys)

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