List of variants in gene SBDS reported as pathogenic for Inborn genetic diseases

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
NM_016038.4(SBDS):c.258+1G>C	rs113993992	0.00002
NM_016038.4(SBDS):c.460-1G>A	rs1792969582	0.00001
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_016038.4(SBDS):c.373_374del (p.Lys125fs)	rs1793014648
NM_016038.4(SBDS):c.53_56dup (p.Met20fs)	rs1490467134
NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)	rs2536926049

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.