ClinVar Miner

List of variants in gene CCDC40 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 17q25.3(chr17:78058431-78074446)x1
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.