List of variants in gene EIF2AK3 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)	rs13045	0.71334
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=)	rs1805164	0.28054
NM_004836.7(EIF2AK3):c.1763+6A>T	rs6750998	0.22566
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)	rs867529	0.22211
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu)	rs75385605	0.00906
NM_004836.6(EIF2AK3):c.-201A>G	rs144057685	0.00671
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)	rs201593811	0.00370
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)	rs55791823	0.00277
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)	rs886042833	0.00094
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu)	rs191277311	0.00010
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs)	rs797045558
NM_004836.7(EIF2AK3):c.265G>A (p.Gly89Ser)	rs767999139
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)	rs1805190

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.