ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic by Fulgent Genetics,Fulgent Genetics

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Total variants: 7
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HGVS dbSNP
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101

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