ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_000096.4(CP):c.*828dup rs35907111
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_032383.5(HPS3):c.2887+19dup rs397710976

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.