ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034

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.