Variants in gene AP4E1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status:		Submission 2 (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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)	rs2306331	0.43394
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)	rs3825798	0.19899
NM_007347.5(AP4E1):c.2905-8A>G	rs56813592	0.01851
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)	rs58909326	0.01464
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)	rs28463775	0.00543
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)	rs115188375	0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)	rs116796602	0.00488
NM_007347.5(AP4E1):c.1177-9T>C	rs145851652	0.00333
NM_007347.5(AP4E1):c.852A>G (p.Leu284=)	rs114575519	0.00287
NM_007347.5(AP4E1):c.2346+10C>T	rs112190952	0.00228
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser)	rs141278078	0.00018
NM_007347.5(AP4E1):c.1815C>T (p.Ser605=)	rs759539551	0.00012
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)	rs187436884	0.00011
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)	rs752693324	0.00001

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.