ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome type 7A by GenomeConnect, ClinGen

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000089.3(COL1A2):c.594+5A>T rs200744314

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.