List of variants in gene FUCA1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)	rs13551	0.27120
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)	rs558338123	0.00007
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)	rs118204450	0.00002
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)	rs80358196	0.00001
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)	rs80358195
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)	rs764863416
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)	rs1186488065
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.810del (p.Cys271fs)	rs1557510081
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)	rs201499886
NM_000147.5(FUCA1):c.989G>A (p.Ser330Asn)	rs950763723

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.