ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000096.4(CP):c.*828dup rs35907111
NM_001349896.1(HPS4):c.-571G>T rs968425
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.*1613C>A rs3752589
NM_022081.6(HPS4):c.-253C>T rs3747134
NM_022081.6(HPS4):c.-296T>C rs5761557
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998
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.