ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP
NM_024747.5(HPS6):c.1498G>A (p.Gly500Arg)	rs772897521
NM_181507.1(HPS5):c.2718-12A>G	rs759757206
NM_212550.4(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)	rs1599746194

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.