List of variants in gene TULP1 reported as benign for Leber congenital amaurosis

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_003322.6(TULP1):c.200C>G (p.Thr67Arg)	rs7764472	0.88862
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)	rs2064318	0.84569
NM_003322.6(TULP1):c.499+26C>T	rs2273001	0.64980
NM_003322.6(TULP1):c.*318T>G	rs1051952	0.58855
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)	rs2064317	0.36637
NM_003322.6(TULP1):c.*268C>A	rs114707578	0.03691
NM_003322.6(TULP1):c.823-17G>C	rs12215920

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.