List of variants in gene EIF2AK2 reported as benign for not provided

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001135651.3(EIF2AK2):c.240+13_240+14insA	rs2307475	0.93802
NM_001135651.3(EIF2AK2):c.1413C>G (p.Leu471=)	rs2307469	0.02946
NM_001135651.3(EIF2AK2):c.876T>C (p.Thr292=)	rs2307478	0.01460
NM_001135651.3(EIF2AK2):c.1026G>A (p.Glu342=)	rs111395561	0.00081
NM_001135651.3(EIF2AK2):c.-183-125C>T	rs2254958
NM_001135651.3(EIF2AK2):c.1249-6del
NM_001135651.3(EIF2AK2):c.1249-6dup
NM_001135651.3(EIF2AK2):c.1278A>G (p.Lys426=)
NM_001135651.3(EIF2AK2):c.1282G>A (p.Val428Ile)
NM_001135651.3(EIF2AK2):c.1331A>G (p.Lys444Arg)
NM_001135651.3(EIF2AK2):c.1377+20T>G
NM_001135651.3(EIF2AK2):c.1416C>T (p.Tyr472=)
NM_001135651.3(EIF2AK2):c.241-9dup
NM_001135651.3(EIF2AK2):c.436A>T (p.Thr146Ser)
NM_001135651.3(EIF2AK2):c.575C>G (p.Ser192Cys)
NM_001135651.3(EIF2AK2):c.585C>G (p.Thr195=)
NM_001135651.3(EIF2AK2):c.590C>T (p.Thr197Ile)
NM_001135651.3(EIF2AK2):c.593+12C>T	rs2307484
NM_001135651.3(EIF2AK2):c.783G>A (p.Lys261=)
NM_001135651.3(EIF2AK2):c.868G>A (p.Gly290Arg)
NM_001135651.3(EIF2AK2):c.906C>T (p.Asn302=)
NM_001135651.3(EIF2AK2):c.940A>G (p.Lys314Glu)

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.