ClinVar Miner

List of variants in gene EEF1A2 reported as uncertain significance by GeneDx

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.1102A>G (p.Ile368Val) rs2082366535 0.00001
NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val) rs757556226 0.00001
NM_001958.5(EEF1A2):c.350C>T (p.Ala117Val) rs866429985 0.00001
NM_001958.5(EEF1A2):c.817C>T (p.Arg273Trp) rs561671132 0.00001
NM_001958.5(EEF1A2):c.1058T>C (p.Ile353Thr)
NM_001958.5(EEF1A2):c.1190G>C (p.Gly397Ala) rs2145938753
NM_001958.5(EEF1A2):c.1239G>C (p.Glu413Asp) rs2082365938
NM_001958.5(EEF1A2):c.1289G>A (p.Arg430Lys) rs1064796704
NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile) rs1057521655
NM_001958.5(EEF1A2):c.1313_1345dup (p.Ala448_Gly449insValLysAsnValGluLysLysSerGlyGlyAla)
NM_001958.5(EEF1A2):c.1321G>A (p.Val441Met)
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg) rs372257864
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[3] (p.Ala461_Gly462insGlnLysAla)
NM_001958.5(EEF1A2):c.152A>G (p.Lys51Arg) rs2145945562
NM_001958.5(EEF1A2):c.184A>G (p.Lys62Glu) rs2516784729
NM_001958.5(EEF1A2):c.194C>T (p.Ala65Val) rs1238718880
NM_001958.5(EEF1A2):c.255C>G (p.Tyr85Ter) rs1555883865
NM_001958.5(EEF1A2):c.287_289dup (p.Arg96_Asp97insGly) rs2516784565
NM_001958.5(EEF1A2):c.311C>T (p.Thr104Met) rs2145945412
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr) rs2145944981
NM_001958.5(EEF1A2):c.334G>A (p.Ala112Thr) rs2145944978
NM_001958.5(EEF1A2):c.356G>A (p.Gly119Asp) rs2145944958
NM_001958.5(EEF1A2):c.374C>A (p.Ala125Glu) rs1057518587
NM_001958.5(EEF1A2):c.386A>C (p.Lys129Thr)
NM_001958.5(EEF1A2):c.574C>A (p.Pro192Thr)
NM_001958.5(EEF1A2):c.581C>T (p.Ser194Phe) rs2516783034
NM_001958.5(EEF1A2):c.588G>A (p.Trp196Ter) rs970078424
NM_001958.5(EEF1A2):c.602T>C (p.Met201Thr) rs2516782983
NM_001958.5(EEF1A2):c.673G>A (p.Gly225Ser) rs2145943632
NM_001958.5(EEF1A2):c.701C>G (p.Thr234Ser)
NM_001958.5(EEF1A2):c.718C>T (p.Arg240Cys) rs2145943591
NM_001958.5(EEF1A2):c.751C>T (p.Gln251Ter)
NM_001958.5(EEF1A2):c.782C>T (p.Thr261Met) rs1555883506
NM_001958.5(EEF1A2):c.790G>A (p.Val264Met) rs2516775531
NM_001958.5(EEF1A2):c.925G>A (p.Gly309Ser) rs921196267
NM_001958.5(EEF1A2):c.958A>C (p.Ile320Leu) rs935904739
NM_001958.5(EEF1A2):c.961C>T (p.Arg321Trp) rs1415254392

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