ClinVar Miner

List of variants in gene EEF1A2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.1029+130T>C rs310607 0.99863
NM_001958.5(EEF1A2):c.1029+106A>G rs310608 0.94248
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_001958.5(EEF1A2):c.145-133C>T rs310619 0.47507
NM_001958.5(EEF1A2):c.324+88A>G rs310618 0.46471
NM_001958.5(EEF1A2):c.1265-97A>G rs7265428 0.34672
NM_001958.5(EEF1A2):c.773-123C>A rs76041667 0.29180
NM_001958.5(EEF1A2):c.773-142T>C rs310609 0.25220
NM_001958.5(EEF1A2):c.145-230G>A rs1555338 0.24308
NM_001958.5(EEF1A2):c.325-291C>T rs2750395 0.21742
NM_001958.5(EEF1A2):c.772+31C>A rs12480745 0.21133
NM_001958.5(EEF1A2):c.-72+100A>C rs181882707 0.12126
NM_001958.5(EEF1A2):c.1030-64C>T rs1757783 0.08002
NM_001958.5(EEF1A2):c.621+268C>T rs73918955 0.05814
NM_001958.5(EEF1A2):c.621+159C>T rs113545140 0.05373
NM_001958.5(EEF1A2):c.1029+12C>T rs45510898 0.04910
NM_001958.5(EEF1A2):c.-72+60C>T rs8117640 0.04374
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=) rs1042796 0.04304
NM_001958.5(EEF1A2):c.145-196C>T rs114885918 0.04138
NM_001958.5(EEF1A2):c.144+78C>T rs113339369 0.03785
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=) rs3818681 0.03482
NM_001958.5(EEF1A2):c.-72+8C>A rs150998792 0.02940
NM_001958.5(EEF1A2):c.773-198C>A rs73150419 0.02906
NM_001958.5(EEF1A2):c.622-34C>T rs76476893 0.02766
NM_001958.5(EEF1A2):c.325-231C>T rs142059873 0.02062
NM_001958.5(EEF1A2):c.622-91C>T rs113504041 0.01543
NM_001958.5(EEF1A2):c.324+93C>G rs111948928 0.01334
NM_001958.5(EEF1A2):c.1029+167C>T rs141887309 0.01209
NM_001958.5(EEF1A2):c.144+27C>T rs181488381 0.00832
NM_001958.5(EEF1A2):c.1265-15C>T rs200634874 0.00820
NM_001958.5(EEF1A2):c.621+225C>G rs182596874 0.00737
NM_001958.5(EEF1A2):c.621+224G>A rs187233474 0.00736
NM_001958.5(EEF1A2):c.1264+241G>C rs140182792 0.00533
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
NM_001958.5(EEF1A2):c.1264+165T>C rs111692642 0.00406
NM_001958.5(EEF1A2):c.1030-134C>A rs59410135 0.00369
NM_001958.5(EEF1A2):c.1030-8G>A rs112283537 0.00314
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.145-38C>T rs139997641 0.00072
NM_001958.5(EEF1A2):c.145-23G>A rs150681256 0.00052
NM_001958.5(EEF1A2):c.279C>T (p.Pro93=) rs142072676 0.00049
NM_001958.5(EEF1A2):c.1265-35C>T rs752535872 0.00047
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=) rs2274861 0.00046
NM_001958.5(EEF1A2):c.144+46C>T rs144340527 0.00042
NM_001958.5(EEF1A2):c.-32G>A rs147821591 0.00041
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=) rs143241534 0.00041
NM_001958.5(EEF1A2):c.772+13G>A rs376455856 0.00041
NM_001958.5(EEF1A2):c.325-33G>A rs367804698 0.00028
NM_001958.5(EEF1A2):c.807C>T (p.Thr269=) rs147062680 0.00025
NM_001958.5(EEF1A2):c.622-26G>A rs373075094 0.00024
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.843G>A (p.Ala281=) rs139282309 0.00013
NM_001958.5(EEF1A2):c.672C>T (p.Ser224=) rs200051020 0.00012
NM_001958.5(EEF1A2):c.621C>T (p.Asn207=) rs544401782 0.00009
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_001958.5(EEF1A2):c.1029+13G>A rs374272155 0.00006
NM_001958.5(EEF1A2):c.1030-10C>A rs571276508 0.00006
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=) rs199643016 0.00006
NM_001958.5(EEF1A2):c.999G>A (p.Pro333=) rs760721599 0.00006
NM_001958.5(EEF1A2):c.-52G>A rs539410205 0.00005
NM_001958.5(EEF1A2):c.621+9C>T rs758255976 0.00005
NM_001958.5(EEF1A2):c.675C>T (p.Gly225=) rs749250921 0.00005
NM_001958.5(EEF1A2):c.773-6C>T rs377166905 0.00005
NM_001958.5(EEF1A2):c.912C>T (p.Pro304=) rs370076840 0.00005
NM_001958.5(EEF1A2):c.-72+7A>C rs1490008860 0.00004
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=) rs754859581 0.00004
NM_001958.5(EEF1A2):c.325-34C>T rs767439830 0.00004
NM_001958.5(EEF1A2):c.354G>A (p.Ala118=) rs143957818 0.00004
NM_001958.5(EEF1A2):c.747G>A (p.Pro249=) rs879640448 0.00004
NM_001958.5(EEF1A2):c.771C>T (p.Gly257=) rs1047396966 0.00004
NM_001958.5(EEF1A2):c.-33C>T rs764730193 0.00003
NM_001958.5(EEF1A2):c.921C>T (p.Asn307=) rs1057522085 0.00003
NM_001958.5(EEF1A2):c.924C>T (p.Val308=) rs779912733 0.00003
NM_001958.5(EEF1A2):c.1029+11G>A rs917960235 0.00002
NM_001958.5(EEF1A2):c.591C>T (p.His197=) rs544191007 0.00002
NM_001958.5(EEF1A2):c.773-15C>T rs780584279 0.00002
NM_001958.5(EEF1A2):c.783G>A (p.Thr261=) rs370695849 0.00002
NM_001958.5(EEF1A2):c.1029+4G>C rs945481319 0.00001
NM_001958.5(EEF1A2):c.1030-30C>T rs532099856 0.00001
NM_001958.5(EEF1A2):c.1065C>T (p.Ala355=) rs998259316 0.00001
NM_001958.5(EEF1A2):c.1102A>G (p.Ile368Val) rs2082366535 0.00001
NM_001958.5(EEF1A2):c.126C>T (p.Phe42=) rs746596211 0.00001
NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val) rs757556226 0.00001
NM_001958.5(EEF1A2):c.145-7G>T rs536472004 0.00001
NM_001958.5(EEF1A2):c.759G>T (p.Val253=) rs372796244 0.00001
NM_001958.5(EEF1A2):c.888C>T (p.His296=) rs762804574 0.00001
NC_000020.11:g.63499116C>T rs140890899
NM_001958.5(EEF1A2):c.-25G>A rs60257456
NM_001958.5(EEF1A2):c.-25G>T rs60257456
NM_001958.5(EEF1A2):c.-72+17_-72+18delinsA rs1600910789
NM_001958.5(EEF1A2):c.1012G>A (p.Ala338Thr) rs1555883486
NM_001958.5(EEF1A2):c.1029+12_1029+30dup rs778258442
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001958.5(EEF1A2):c.1030-232GCCCCT[3] rs143950056
NM_001958.5(EEF1A2):c.1030-275dup rs372583413
NM_001958.5(EEF1A2):c.1030-62C>G rs145000334
NM_001958.5(EEF1A2):c.1095A>C (p.Thr365=) rs1057521881
NM_001958.5(EEF1A2):c.1190G>C (p.Gly397Ala)
NM_001958.5(EEF1A2):c.124T>A (p.Phe42Ile) rs1555883975
NM_001958.5(EEF1A2):c.1264+10G>T rs1057522758
NM_001958.5(EEF1A2):c.1265-10del rs1170731512
NM_001958.5(EEF1A2):c.1265-16GCCCCCC[3] rs760400114
NM_001958.5(EEF1A2):c.1265-1dup rs1555883345
NM_001958.5(EEF1A2):c.1265-45del rs140125000
NM_001958.5(EEF1A2):c.1265-52dup rs140125000
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.5(EEF1A2):c.1289G>A (p.Arg430Lys) rs1064796704
NM_001958.5(EEF1A2):c.129G>A (p.Glu43=) rs1057523159
NM_001958.5(EEF1A2):c.1302C>A (p.Ala434=) rs1057522311
NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile) rs1057521655
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
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.1341C>T (p.Gly447=) rs1453471749
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_001958.5(EEF1A2):c.1389G>A (p.Lys463=) rs1196685106
NM_001958.5(EEF1A2):c.150G>C (p.Gly50=) rs751627255
NM_001958.5(EEF1A2):c.152A>G (p.Lys51Arg) rs2145945562
NM_001958.5(EEF1A2):c.184A>G (p.Lys62Glu)
NM_001958.5(EEF1A2):c.194C>T (p.Ala65Val) rs1238718880
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.255C>G (p.Tyr85Ter) rs1555883865
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.287_289dup (p.Arg96_Asp97insGly)
NM_001958.5(EEF1A2):c.311C>T (p.Thr104Met) rs2145945412
NM_001958.5(EEF1A2):c.324+5dup rs1555883860
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.336A>G (p.Ala112=) rs1057522663
NM_001958.5(EEF1A2):c.342G>C (p.Leu114=) rs1057523020
NM_001958.5(EEF1A2):c.350C>T (p.Ala117Val) rs866429985
NM_001958.5(EEF1A2):c.356G>A (p.Gly119Asp) rs2145944958
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.368T>G (p.Phe123Cys)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.374C>A (p.Ala125Glu) rs1057518587
NM_001958.5(EEF1A2):c.54C>G (p.Ser18=) rs200759764
NM_001958.5(EEF1A2):c.581C>T (p.Ser194Phe)
NM_001958.5(EEF1A2):c.588G>A (p.Trp196Ter) rs970078424
NM_001958.5(EEF1A2):c.602T>C (p.Met201Thr)
NM_001958.5(EEF1A2):c.633C>T (p.Phe211=) rs1057523670
NM_001958.5(EEF1A2):c.673G>A (p.Gly225Ser) rs2145943632
NM_001958.5(EEF1A2):c.67A>T (p.Thr23Ser) rs775423668
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.772+288CCAT[6] rs55637832
NM_001958.5(EEF1A2):c.772+314ATCC[3] rs55702383
NM_001958.5(EEF1A2):c.773-170del rs77467883
NM_001958.5(EEF1A2):c.773-202C>T rs188320768
NM_001958.5(EEF1A2):c.773-39C>T rs765738067
NM_001958.5(EEF1A2):c.782C>T (p.Thr261Met) rs1555883506
NM_001958.5(EEF1A2):c.790G>A (p.Val264Met)
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.817C>T (p.Arg273Trp) rs561671132
NM_001958.5(EEF1A2):c.925G>A (p.Gly309Ser) rs921196267
NM_001958.5(EEF1A2):c.943G>A (p.Val315Met) rs1131691663
NM_001958.5(EEF1A2):c.958A>C (p.Ile320Leu) rs935904739
NM_001958.5(EEF1A2):c.961C>T (p.Arg321Trp) rs1415254392

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.