ClinVar Miner

List of variants in gene CHEK2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.319+3966G>A rs137926355 0.00040
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.319+3865T>C rs964218389 0.00006
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007194.4(CHEK2):c.1035C>T (p.His345=) rs756520206 0.00001
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.908+10A>G rs774973319 0.00001
NM_007194.4(CHEK2):c.997T>C (p.Leu333=) rs1352758126 0.00001
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
NM_007194.4(CHEK2):c.1032A>C (p.Ile344=) rs202051128
NM_007194.4(CHEK2):c.1375+16G>A rs776700371
NM_007194.4(CHEK2):c.276C>G (p.Pro92=) rs1478388236
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) rs876660497
NM_007194.4(CHEK2):c.319+3987T>C
NM_007194.4(CHEK2):c.319+3991G>A
NM_007194.4(CHEK2):c.444+10G>T
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.592+94G>A

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