ClinVar Miner

List of variants in gene FTL, LOC130064891 studied for Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000019.10:g.48965277C>T	rs960442161	0.00003
NC_000019.10:g.48965260T>G
NC_000019.10:g.48965263G>A	rs1034875270
NC_000019.10:g.48965263G>C
NC_000019.10:g.48965270G>C

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.