ClinVar Miner

List of variants in gene HPS4 reported as likely benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.5(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) rs116769827
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.5(HPS4):c.2079C>T (p.Ser693=) rs138189133
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.5(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168

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.