ClinVar Miner

List of variants in gene EEF1A2 reported as benign for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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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.772+31C>A rs12480745 0.21133
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.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.279C>T (p.Pro93=) rs142072676 0.00049
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.672C>T (p.Ser224=) rs200051020 0.00012
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.1264+18G>A rs748993770 0.00006
NM_001958.5(EEF1A2):c.726G>A (p.Thr242=) rs1005974432 0.00006
NM_001958.5(EEF1A2):c.675C>T (p.Gly225=) rs749250921 0.00005
NM_001958.5(EEF1A2):c.351G>A (p.Ala117=) rs148602858 0.00004
NM_001958.5(EEF1A2):c.72G>A (p.Thr24=) rs746094472 0.00002
NM_001958.5(EEF1A2):c.1029+4G>C rs945481319 0.00001
NM_001958.5(EEF1A2):c.1339G>A (p.Gly447Ser) rs934642118 0.00001
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001958.5(EEF1A2):c.1029+8dup
NM_001958.5(EEF1A2):c.1265-10del rs1170731512
NM_001958.5(EEF1A2):c.1265-15dup rs1170731512
NM_001958.5(EEF1A2):c.1265-3del
NM_001958.5(EEF1A2):c.1275C>A (p.Ala425=) rs1290491559
NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=) rs367803280
NM_001958.5(EEF1A2):c.150G>T (p.Gly50=) rs751627255

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