List of variants reported as pathogenic for Stickler syndrome, type I, nonsyndromic ocular

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)	rs121912896
NM_001844.5(COL2A1):c.1420-1G>A
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr)	rs121912898
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer)	rs2136637244
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)	rs121912897
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)	rs121912885
NM_001844.5(COL2A1):c.3886+2T>C	rs1592196064
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.696del (p.Glu232fs)
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)	rs121912872

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.