List of variants reported as benign for Stargardt disease 3

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)	rs3812153	0.15428
NM_022726.4(ELOVL4):c.*142G>C	rs1512118	0.15383
NM_022726.4(ELOVL4):c.*667T>C	rs16891260	0.15372
NM_022726.4(ELOVL4):c.-236C>T	rs240307	0.14804
NM_022726.4(ELOVL4):c.*1669T>G	rs2991	0.14296
NM_022726.4(ELOVL4):c.*361C>T	rs41270557	0.03380
NM_022726.4(ELOVL4):c.*609G>A	rs41270555	0.03374
NM_022726.4(ELOVL4):c.*1066T>G	rs45594338	0.03371
NM_022726.4(ELOVL4):c.*1551A>G	rs55808788	0.02617
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)	rs148919174	0.00936
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)	rs148594713	0.00636
NM_022726.4(ELOVL4):c.*509C>T	rs149410136	0.00424
NM_022726.4(ELOVL4):c.*8T>C	rs144822141	0.00421
NM_022726.4(ELOVL4):c.-98C>T	rs562763990	0.00344
NM_022726.4(ELOVL4):c.-268T>G	rs546271509	0.00343
NM_022726.4(ELOVL4):c.*1050A>G	rs114429396	0.00158
NM_022726.4(ELOVL4):c.*377T>A	rs77249894	0.00027
NM_022726.4(ELOVL4):c.*360A>G	rs537318852
NM_022726.4(ELOVL4):c.-90G>C	rs62407622

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.