ClinVar Miner

List of variants studied for Stickler syndrome type 2 by 3billion

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1927G>C (p.Gly643Arg)
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.3816+6T>G rs2101038892

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.