List of variants reported as pathogenic for SLC35A1-congenital disorder of glycosylation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC]
NM_006416.5(SLC35A1):c.303G>C (p.Gln101His)	rs1554166294
NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)	rs2482848939
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)	rs578205635
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)	rs1554166844

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.