Variants in gene AKAP9 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) 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_005751.5(AKAP9):c.510G>C (p.Glu170Asp)	rs144888041	0.00212
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)	rs56198613	0.00111
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)	rs144875383	0.00093
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)	rs140470576	0.00061
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)	rs148146011	0.00026
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His)	rs142573103	0.00025
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=)	rs138928104	0.00024
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)	rs77447750	0.00014
NM_005751.5(AKAP9):c.6330+3A>G	rs771419309	0.00005
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val)	rs587780849	0.00001
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)	rs786205707
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)	rs543634397

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.