ClinVar Miner

List of variants in gene SSR4 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_006280.3(SSR4):c.187-301_352-15del rs1557072752
NM_006280.3(SSR4):c.317del (p.Phe106fs) rs606231298
NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs) rs794729223
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006280.3(SSR4):c.418-1G>A rs1057518736

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.