List of variants in gene AP3B1 reported as uncertain significance for connective tissue 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)	rs150000996	0.00088
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)	rs112652327	0.00047
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)	rs115747826	0.00027
NM_003664.5(AP3B1):c.1020G>A (p.Val340=)	rs145787996	0.00001
NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter)	rs1248215588	0.00001
NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val)	rs1384216426	0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)	rs535976982	0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)	rs773537846	0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)	rs759296897	0.00001
NM_003664.5(AP3B1):c.1230+7G>A	rs1298715924
NM_003664.5(AP3B1):c.1688A>C (p.Lys563Thr)	rs2112301217
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)	rs749489841
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=)	rs35976098
NM_003664.5(AP3B1):c.853G>A (p.Asp285Asn)	rs2112414243

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.