List of variants in gene HPS6 reported as pathogenic for Hermansky-Pudlak syndrome

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_024747.5(HPS6):c.155del (p.Val52fs)	rs1590262450
NM_024747.5(HPS6):c.1624del (p.Asp542fs)	rs1590263807
NM_024747.5(HPS6):c.238dup (p.Asp80fs)	rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs)	rs1564899012

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.