ClinVar Miner

List of variants studied for Dandy-Walker syndrome by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245

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.