ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360

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.