ClinVar Miner

List of variants in gene EEF1A2 reported by Ambry Genetics

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=) rs1042796 0.04304
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=) rs3818681 0.03482
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=) rs200259257 0.00299
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_001958.5(EEF1A2):c.237G>A (p.Lys79=) rs61737389 0.00219
NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=) rs372257864 0.00202
NM_001958.5(EEF1A2):c.279C>T (p.Pro93=) rs142072676 0.00049
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=) rs2274861 0.00046
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=) rs143241534 0.00041
NM_001958.5(EEF1A2):c.807C>T (p.Thr269=) rs147062680 0.00025
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=) rs376374917 0.00020
NM_001958.5(EEF1A2):c.789C>T (p.Pro263=) rs148075587 0.00016
NM_001958.5(EEF1A2):c.672C>T (p.Ser224=) rs200051020 0.00012
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_001958.5(EEF1A2):c.219C>T (p.Ile73=) rs371263699 0.00006
NM_001958.5(EEF1A2):c.726G>A (p.Thr242=) rs1005974432 0.00006
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=) rs754859581 0.00004
NM_001958.5(EEF1A2):c.351G>A (p.Ala117=) rs148602858 0.00004
NM_001958.5(EEF1A2):c.747G>A (p.Pro249=) rs879640448 0.00004
NM_001958.5(EEF1A2):c.1269C>T (p.Arg423=) rs900643414 0.00003
NM_001958.5(EEF1A2):c.717G>A (p.Thr239=) rs1355719317 0.00003
NM_001958.5(EEF1A2):c.924C>T (p.Val308=) rs779912733 0.00003
NM_001958.5(EEF1A2):c.93C>T (p.Cys31=) rs747910289 0.00003
NM_001958.5(EEF1A2):c.783G>A (p.Thr261=) rs370695849 0.00002
NM_001958.5(EEF1A2):c.1064C>T (p.Ala355Val) rs146728528 0.00001
NM_001958.5(EEF1A2):c.363C>T (p.Gly121=) rs746290505 0.00001
NM_001958.5(EEF1A2):c.622-4C>G rs1313830443 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_001958.5(EEF1A2):c.739C>T (p.Arg247Cys) rs1325353717 0.00001
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001958.5(EEF1A2):c.1084G>T (p.Asp362Tyr)
NM_001958.5(EEF1A2):c.1190G>A (p.Gly397Glu) rs2145938753
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.5(EEF1A2):c.1296G>T (p.Thr432=) rs200259257
NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=) rs367803280
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg) rs372257864
NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=) rs781155823
NM_001958.5(EEF1A2):c.150G>C (p.Gly50=) rs751627255
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.324+3G>A rs940466607
NM_001958.5(EEF1A2):c.350C>T (p.Ala117Val) rs866429985
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.378C>T (p.Gly126=)
NM_001958.5(EEF1A2):c.54C>G (p.Ser18=) rs200759764
NM_001958.5(EEF1A2):c.676G>C (p.Val226Leu)
NM_001958.5(EEF1A2):c.714C>G (p.Pro238=) rs557317848
NM_001958.5(EEF1A2):c.714C>T (p.Pro238=) rs557317848
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met) rs1064795618
NM_001958.5(EEF1A2):c.756C>T (p.Asp252=)
NM_001958.5(EEF1A2):c.778G>A (p.Gly260Ser)
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.863A>T (p.Glu288Val) rs1555883501
NM_001958.5(EEF1A2):c.947C>G (p.Ser316Trp)

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