ClinVar Miner

List of variants in gene AP3B1 reported as pathogenic for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
AP3B1, 1-BP INS, 1618G
AP3B1, IVS14DS, T-C, +6
NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.4(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.4(AP3B1):c.1839_1842delTAGA rs869312839
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) rs121908905

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.