List of variants in gene HPS4 reported as pathogenic for hematologic disorder

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)	rs281865164	0.00004
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs)	rs2146555632
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)	rs372020804
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter)	rs119471021
NM_022081.6(HPS4):c.2054del (p.Pro685fs)	rs2146241760
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs)	rs281865100
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)	rs119471024
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg)	rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter)	rs119471022
NM_022081.6(HPS4):c.57del (p.Leu20fs)	rs281865097
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter)	rs119471025

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.