List of variants studied for Stickler syndrome type 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1372C>G (p.Pro458Ala)
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	rs1939189846
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)	rs1555166537
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn)	rs760093841
NM_001844.5(COL2A1):c.989G>A (p.Gly330Asp)

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.