ClinVar Miner

List of variants in gene CHEK2 reported by True Health Diagnostics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1348G>A (p.Glu450Lys) rs1555913429
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) rs876659184

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