List of variants reported as pathogenic for Osteogenesis imperfecta type I by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1354-12G>A	rs72648337	0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)	rs72656392	0.00001
NM_000088.4(COL1A1):c.1614+2T>A	rs1598295482
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	rs1351742344
NM_000088.4(COL1A1):c.1920del (p.Gly641fs)	rs2144563732
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs)	rs1598286050
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)	rs886042286

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.