List of variants in gene FUCA1, LOC129929685 studied for Fucosidosis

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.389+14C>T	rs553138426	0.00134
NM_000147.5(FUCA1):c.389+20G>A	rs1199190783	0.00005
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)	rs1411389016	0.00001
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)	rs765520069	0.00001
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)	rs980153372	0.00001
NM_000147.5(FUCA1):c.389+15G>C	rs1395597191	0.00001
NM_000147.5(FUCA1):c.389+18G>A	rs764568139	0.00001
NM_000147.5(FUCA1):c.389+6T>C	rs577790391	0.00001
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)	rs780117609
NM_000147.5(FUCA1):c.389+13C>A	rs2521758616
NM_000147.5(FUCA1):c.389+14C>G	rs553138426
NM_000147.5(FUCA1):c.389+18del	rs2521758561
NM_000147.5(FUCA1):c.389+2T>G
NM_000147.5(FUCA1):c.389+4A>C	rs2521758677

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.