List of variants reported as benign for Danon disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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_002294.3(LAMP2):c.927C>T (p.Ser309=)	rs73219144	0.02702
NM_002294.3(LAMP2):c.*2746A>G	rs3827478	0.01396
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)	rs145169006	0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)	rs141541387	0.00119
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]	rs193922648

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.