List of variants reported as pathogenic for inherited vitreoretinopathy by 3billion

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_000330.4(RS1):c.305G>A (p.Arg102Gln)	rs61752068	0.00001
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter)	rs1396340484	0.00001
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	rs199469696
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)	rs281865354
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del)	rs797044918
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)	rs1555166218
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter)	rs545508982
NM_004385.5(VCAN):c.4004-1G>A	rs80356554
NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter)	rs1437503069

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.