List of variants studied for Fucosidosis by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)	rs118204450	0.00002
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)	rs80358199	0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)	rs80358196	0.00001
NG_013346.1:g.(24722_27196)_(28294_?)del
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)	rs80358195
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter)	rs80358197
NM_000147.5(FUCA1):c.437del (p.Pro146fs)
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter)	rs80358198
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000147.5(FUCA1):c.810del (p.Cys271fs)	rs1557510081
NM_000147.5(FUCA1):c.969+1G>A	rs1570679652

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.