ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 5
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NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995

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