ClinVar Miner

List of variants in gene CCDC40 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_017950.4(CCDC40):c.1989+1G>A rs745993158
NM_017950.4(CCDC40):c.2235+1G>T rs1568709952
NM_017950.4(CCDC40):c.2450-1G>A rs774081599
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2832+297G>T
NM_017950.4(CCDC40):c.2832+395dup
NM_017950.4(CCDC40):c.298del (p.Thr100fs)
NM_017950.4(CCDC40):c.3181-2A>G rs762664261
NM_017950.4(CCDC40):c.855+1G>A rs1346603171

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.