ClinVar Miner

List of variants studied for Fucosidosis by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys) rs779017131
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186

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.