ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*299C>T rs12419588
NM_181507.1(HPS5):c.*300T>C rs12416821
NM_181507.1(HPS5):c.*443T>A rs74602396
NM_181507.1(HPS5):c.*464C>A rs1046611
NM_181507.1(HPS5):c.*475C>T rs1046615
NM_181507.1(HPS5):c.*702A>T rs79086536
NM_181507.1(HPS5):c.*804C>T rs1046628
NM_181507.1(HPS5):c.-142C>T rs4150528
NM_181507.1(HPS5):c.-250G>T rs4150529
NM_181507.1(HPS5):c.-251C>A rs4150530
NM_181507.1(HPS5):c.-91C>G rs4150527
NM_181507.1(HPS5):c.2441-8T>C rs144196437
NM_181507.1(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179
NM_181507.2(HPS5):c.1165-15C>A rs7128146
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.2(HPS5):c.1635-4C>G rs79009787
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.2(HPS5):c.3058+9A>G rs2049129
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047

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.