List of variants reported as pathogenic by Inherited Eye Disorders lab, UCL Institute of Ophthalmology

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)	rs761388176	0.00003
NC_000006.12:g.99598907A>C	rs1008984719
NC_000006.12:g.99598928T>C	rs1583609839
NM_001080442.3(SLC38A8):c.435G>A (p.Trp145Ter)	rs752802453
NM_001080442.3(SLC38A8):c.632+1G>A	rs1473492838
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	rs1804565177
NM_152419.3(HGSNAT):c.1543-2A>C	rs1804769861
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs)	rs1804782152

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.