List of variants in gene combination LOC108903148, OPTN reported as pathogenic for Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_001008212.2(OPTN):c.127C>T (p.Gln43Ter)	rs934287314	0.00002
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)	rs1358641287	0.00001
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)	rs1359892832	0.00001
NM_001008212.2(OPTN):c.157C>T (p.Gln53Ter)
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)	rs1564354968
NM_001008212.2(OPTN):c.76del (p.His26fs)	rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs)	rs753966040

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.