ClinVar Miner

List of variants in gene EIF2S3 studied for MEHMO syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.50815
NM_001415.4(EIF2S3):c.1183-15A>G rs1379305185 0.00001
NM_001415.4(EIF2S3):c.*109G>A
NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser) rs2147129316
NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln) rs1930671469
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser) rs2147131515
NM_001415.4(EIF2S3):c.1304C>T (p.Thr435Ile)
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg) rs2147132795
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.4(EIF2S3):c.353C>T (p.Pro118Leu)
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) rs1602041478
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr) rs2518575520
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr) rs886040855
NM_001415.4(EIF2S3):c.717A>G (p.Ile239Met) rs2518576402
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met) rs886040856
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val) rs2147128410
NM_001415.4(EIF2S3):c.868G>A (p.Val290Met)
NM_001415.4(EIF2S3):c.938C>T (p.Pro313Leu) rs2518578823

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.