ClinVar Miner

List of variants in gene CCDC40 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_017950.4(CCDC40):c.1440+1G>C rs886042621
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386

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