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

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)	rs139344924	0.00669
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)	rs75248449	0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)	rs146503597	0.00517
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)	rs62001052	0.00398
NM_003664.5(AP3B1):c.2613C>T (p.His871=)	rs144420604	0.00295
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)	rs139968311	0.00213
NM_003664.5(AP3B1):c.388C>T (p.Leu130=)	rs138774723	0.00004
NM_003664.5(AP3B1):c.*552TAAA[1]	rs886060767
NM_003664.5(AP3B1):c.*69dup	rs886060769

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.