ClinVar Miner

List of variants in gene EEF1A2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
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.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.912C>T (p.Pro304=) rs370076840 0.00005
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=) rs754859581 0.00004
NM_001958.5(EEF1A2):c.1281C>T (p.Arg427=) rs776988182 0.00003
NM_001958.5(EEF1A2):c.288C>T (p.Arg96=) rs368043002 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.591C>T (p.His197=) rs544191007 0.00002
NM_001958.5(EEF1A2):c.240C>T (p.Phe80=) rs777444750 0.00001
NM_001958.5(EEF1A2):c.325-8C>T rs769119480 0.00001
NM_001958.5(EEF1A2):c.900C>T (p.Ser300=) rs374349515 0.00001
NM_001958.5(EEF1A2):c.948G>A (p.Ser316=) rs750037526 0.00001
NM_001958.5(EEF1A2):c.*246C>T
NM_001958.5(EEF1A2):c.1002G>A (p.Pro334=) rs759770756
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001958.5(EEF1A2):c.1194C>T (p.Asp398=)
NM_001958.5(EEF1A2):c.1203C>T (p.Ile401=) rs758653621
NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=) rs781155823
NM_001958.5(EEF1A2):c.231C>G (p.Leu77=) rs1600908507
NM_001958.5(EEF1A2):c.348G>A (p.Val116=)
NM_001958.5(EEF1A2):c.714C>T (p.Pro238=) rs557317848
NM_001958.5(EEF1A2):c.99T>A (p.Gly33=)

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