ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356

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.