ClinVar Miner

List of variants in gene EEF1A2 studied for not specified

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Gene type:
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Total variants: 46
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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.1029+12C>T rs45510898 0.04910
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.-72+8C>A rs150998792 0.02940
NM_001958.5(EEF1A2):c.1265-15C>T rs200634874 0.00820
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
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.375G>A (p.Ala125=) rs2274861 0.00046
NM_001958.5(EEF1A2):c.772+13G>A rs376455856 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.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.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.924C>T (p.Val308=) rs779912733 0.00003
NM_001958.5(EEF1A2):c.1029+11G>A rs917960235 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.1065C>T (p.Ala355=) rs998259316 0.00001
NM_001958.5(EEF1A2):c.126C>T (p.Phe42=) rs746596211 0.00001
NM_001958.5(EEF1A2):c.145-7G>T rs536472004 0.00001
NM_001958.5(EEF1A2):c.-25G>A rs60257456
NM_001958.5(EEF1A2):c.-25G>T rs60257456
NM_001958.5(EEF1A2):c.1030-1G>A rs2145938874
NM_001958.5(EEF1A2):c.1095A>C (p.Thr365=) rs1057521881
NM_001958.5(EEF1A2):c.1264+10G>T rs1057522758
NM_001958.5(EEF1A2):c.1265-10del rs1170731512
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.1320C>T (p.Asn440=) rs367803280
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_001958.5(EEF1A2):c.324+9G>A rs2145945388
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.374C>A (p.Ala125Glu) rs1057518587
NM_001958.5(EEF1A2):c.633C>T (p.Phe211=) rs1057523670
NM_001958.5(EEF1A2):c.67A>T (p.Thr23Ser) rs775423668

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