ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome 5 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_181507.2(HPS5):c.*464C>A rs1046611 0.35745
NM_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_181507.1(HPS5):c.-251C>A rs4150530 0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_181507.2(HPS5):c.*702A>T rs79086536 0.01805
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056

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.