ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic by Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine

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Total variants: 9
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HGVS dbSNP
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) rs1569114113
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.494del (p.Gly165fs) rs1569157733
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.971del (p.Cys324fs) rs1569121172

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