Variants in gene AP4B1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)	rs1217401	0.42071
NM_001253852.3(AP4B1):c.618-13G>C	rs3789613	0.31448
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)	rs17464525	0.16017
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)	rs34751342	0.03013
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)	rs114201291	0.01466
NM_001253852.3(AP4B1):c.1793-9C>G	rs17031980	0.00589
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)	rs34249695	0.00525
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)	rs145182838	0.00445
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	rs114734921	0.00406
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)	rs183034705	0.00051
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)	rs201047107	0.00037
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)	rs146053295	0.00037

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.