List of variants in gene HPS5 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.2441-8T>C	rs144196437	0.00708
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)	rs17853184	0.00144
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)	rs149039105	0.00025
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)	rs149564550	0.00023
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)	rs142793392	0.00015
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)	rs149512871	0.00014
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)	rs781166596	0.00008
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)	rs139349345	0.00003
NM_181507.2(HPS5):c.3059-10G>A	rs764418389	0.00003
NM_181507.2(HPS5):c.1862+1G>A	rs778500897	0.00002
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)	rs564959505	0.00001
NM_181507.2(HPS5):c.1324-32dup	rs369116404
NM_181507.2(HPS5):c.2077del (p.Arg693fs)	rs746844529
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs)	rs397507169

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.