List of variants reported as likely benign for Cholestanol storage disease 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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)	rs147975335	0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)	rs2229381	0.00498
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)	rs75897848	0.00225
NM_000784.4(CYP27A1):c.*47G>A	rs140059093	0.00028
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)	rs200604732	0.00010
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)	rs72551323
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)	rs59443548

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.