List of variants reported as uncertain significance for Sitosterolemia by Illumina Laboratory Services, Illumina

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_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	rs150890296	0.00035
NM_022436.3(ABCG5):c.*357dup	rs886056027
NM_022436.3(ABCG5):c.905-3dup	rs142037828
NM_022437.3(ABCG8):c.523_531del	rs886056039
NM_022437.3(ABCG8):c.*96del	rs4148229

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.