List of variants in gene HPS5 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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_181507.2(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.2441-8T>C	rs144196437	0.00708
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.