List of variants reported as likely benign for Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130384.3(ATRIP):c.*722C>T	rs2279076	0.00673
NM_130384.3(ATRIP):c.*267T>C	rs148393533	0.00332
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)	rs55999987	0.00184
NM_130384.3(ATRIP):c.*665C>T	rs548710061	0.00108
NM_033629.6(TREX1):c.312G>C (p.Leu104=)	rs56162833	0.00010
NM_033629.6(TREX1):c.651G>A (p.Arg217=)	rs140199177	0.00007
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)	rs761651331	0.00006
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)	rs762011967	0.00004
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala)	rs200510205
NM_130384.3(ATRIP):c.*272del	rs3135939

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.