ClinVar Miner

List of variants in gene CHEK2 reported as uncertain significance by GeneKor MSA

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
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.1427C>A (p.Thr476Lys) rs142763740
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val) rs1569101970
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro) rs587781667
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
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.911T>A (p.Met304Lys) rs587782033

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