ClinVar Miner

List of variants in gene EFTUD2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1412A>T (p.Asp471Val) rs750014204 0.00002
NM_004247.4(EFTUD2):c.1736C>T (p.Pro579Leu) rs748956109 0.00002
NM_004247.4(EFTUD2):c.956C>T (p.Thr319Met) rs1467291243 0.00002
NM_004247.4(EFTUD2):c.1045T>G (p.Phe349Val) rs1170530911 0.00001
NM_004247.4(EFTUD2):c.1628G>A (p.Arg543His) rs2050636284 0.00001
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) rs1230495188 0.00001
NM_004247.4(EFTUD2):c.2260-9T>A rs762093105 0.00001
NM_004247.4(EFTUD2):c.706A>G (p.Met236Val) rs1131691310 0.00001
NM_004247.4(EFTUD2):c.941A>G (p.Tyr314Cys) rs757956953 0.00001
NM_004247.4(EFTUD2):c.1011A>C (p.Gln337His)
NM_004247.4(EFTUD2):c.1066T>G (p.Phe356Val) rs1555566527
NM_004247.4(EFTUD2):c.1073A>G (p.Lys358Arg) rs2050778832
NM_004247.4(EFTUD2):c.1088G>A (p.Ser363Asn) rs2145487613
NM_004247.4(EFTUD2):c.1093_1094delinsAA (p.Ser365Asn)
NM_004247.4(EFTUD2):c.1100G>A (p.Arg367Lys)
NM_004247.4(EFTUD2):c.1150-3C>G
NM_004247.4(EFTUD2):c.1403G>A (p.Cys468Tyr)
NM_004247.4(EFTUD2):c.1466A>G (p.Gln489Arg)
NM_004247.4(EFTUD2):c.1541A>G (p.Tyr514Cys) rs2145470228
NM_004247.4(EFTUD2):c.1648G>A (p.Val550Ile) rs1131691840
NM_004247.4(EFTUD2):c.1720-3C>G
NM_004247.4(EFTUD2):c.178C>A (p.His60Asn)
NM_004247.4(EFTUD2):c.1810C>T (p.Leu604Phe)
NM_004247.4(EFTUD2):c.1829T>A (p.Val610Asp) rs2508751404
NM_004247.4(EFTUD2):c.1849C>G (p.Leu617Val) rs1555565353
NM_004247.4(EFTUD2):c.1891G>C (p.Gly631Arg)
NM_004247.4(EFTUD2):c.1927G>A (p.Asp643Asn) rs2145455386
NM_004247.4(EFTUD2):c.1963G>T (p.Val655Leu) rs760199934
NM_004247.4(EFTUD2):c.2002G>A (p.Glu668Lys) rs2145447931
NM_004247.4(EFTUD2):c.2039A>G (p.Asn680Ser)
NM_004247.4(EFTUD2):c.2059A>G (p.Met687Val) rs2050521828
NM_004247.4(EFTUD2):c.2110G>T (p.Val704Leu)
NM_004247.4(EFTUD2):c.2125T>G (p.Trp709Gly)
NM_004247.4(EFTUD2):c.2172G>T (p.Trp724Cys) rs2508729859
NM_004247.4(EFTUD2):c.2302C>G (p.Gln768Glu)
NM_004247.4(EFTUD2):c.2336T>G (p.Leu779Arg)
NM_004247.4(EFTUD2):c.2398C>T (p.Pro800Ser)
NM_004247.4(EFTUD2):c.2426T>C (p.Ile809Thr) rs2145434884
NM_004247.4(EFTUD2):c.2594G>A (p.Gly865Asp) rs2508718575
NM_004247.4(EFTUD2):c.2637C>G (p.Asp879Glu)
NM_004247.4(EFTUD2):c.2645G>T (p.Gly882Val) rs2145431448
NM_004247.4(EFTUD2):c.2662C>T (p.Arg888Trp)
NM_004247.4(EFTUD2):c.2687T>C (p.Phe896Ser)
NM_004247.4(EFTUD2):c.2731C>T (p.Pro911Ser) rs2508714356
NM_004247.4(EFTUD2):c.2800A>G (p.Met934Val)
NM_004247.4(EFTUD2):c.2809A>G (p.Thr937Ala) rs199868353
NM_004247.4(EFTUD2):c.382C>T (p.Leu128Phe) rs2051113779
NM_004247.4(EFTUD2):c.421G>A (p.Gly141Ser) rs2508834550
NM_004247.4(EFTUD2):c.56C>T (p.Ser19Phe) rs974332362
NM_004247.4(EFTUD2):c.622C>T (p.His208Tyr) rs2145532868
NM_004247.4(EFTUD2):c.633C>A (p.Phe211Leu) rs2145532803
NM_004247.4(EFTUD2):c.635C>G (p.Ser212Cys)
NM_004247.4(EFTUD2):c.659G>A (p.Arg220His) rs765588398
NM_004247.4(EFTUD2):c.686T>C (p.Ile229Thr) rs1408054257
NM_004247.4(EFTUD2):c.769A>G (p.Ile257Val) rs369010652
NM_004247.4(EFTUD2):c.870-11CT[3] rs761538887
NM_004247.4(EFTUD2):c.913G>A (p.Gly305Ser)

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.