List of variants studied for Osteogenesis imperfecta, perinatal lethal by Genomics England Pilot Project, Genomics England

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	rs72645366
NM_000088.4(COL1A1):c.1200+1del	rs2144576696
NM_000088.4(COL1A1):c.3046-1G>T	rs67965462
NM_000088.4(COL1A1):c.3207+1_3207+2del	rs1064796200
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	rs72645355
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)	rs1114167416
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	rs1554395833
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	rs67525025

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.