ClinVar Miner

List of variants in gene HPS4 reported as likely pathogenic for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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.706+1G>A rs374343385 0.00001
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs) rs773968140
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1156del (p.His386fs)
NM_022081.6(HPS4):c.132+1G>A
NM_022081.6(HPS4):c.133-1G>A
NM_022081.6(HPS4):c.133-2A>G
NM_022081.6(HPS4):c.133-2A>T
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) rs752827715
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
NM_022081.6(HPS4):c.276+5G>A rs1602079277
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
NM_022081.6(HPS4):c.41+1_41+3del
NM_022081.6(HPS4):c.412del (p.Glu138fs)
NM_022081.6(HPS4):c.42-2A>C
NM_022081.6(HPS4):c.42-2A>G
NM_022081.6(HPS4):c.446del (p.Asn149fs)
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.502-2A>T
NM_022081.6(HPS4):c.669+1G>A
NM_022081.6(HPS4):c.673_686del
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
NM_022081.6(HPS4):c.803+1G>A
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)

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.