Variants in gene DOK7 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)	rs139468087	0.00181
NM_173660.5(DOK7):c.331+9C>T	rs370879328	0.00098
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)	rs138010842	0.00046
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)	rs375877997	0.00043
NM_173660.5(DOK7):c.957C>G (p.Pro319=)	rs777573281	0.00016
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)	rs371846002	0.00006
NM_173660.5(DOK7):c.193C>T (p.Leu65=)	rs546630800	0.00001
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu)	rs577616504
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)	rs201894731
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)	rs376805794
NM_173660.5(DOK7):c.918C>T (p.Ala306=)	rs141947707

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.