ClinVar Miner

List of variants in gene EEF1A2 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.5(EEF1A2):c.1304T>C (p.Val435Ala) rs2145938177
NM_001958.5(EEF1A2):c.205C>T (p.Arg69Cys) rs1555883869
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.274G>A (p.Ala92Thr) rs2082414178
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.391G>A (p.Gly131Arg)
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505

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