ClinVar Miner

List of variants in gene CHEK2 reported as likely pathogenic by Database of Curated Mutations (DoCM)

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala) rs786202676
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170

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