ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200
NM_152841.2(HPS4):c.261+5G>A rs1602079277

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.