List of variants in gene EEF1A2 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001958.5(EEF1A2):c.1012G>A (p.Ala338Thr)	rs1555883486
NM_001958.5(EEF1A2):c.124T>A (p.Phe42Ile)	rs1555883975
NM_001958.5(EEF1A2):c.1265-1dup	rs1555883345
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)	rs1057521655
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1])	rs879255373
NM_001958.5(EEF1A2):c.368T>G (p.Phe123Cys)
NM_001958.5(EEF1A2):c.943G>A (p.Val315Met)	rs1131691663

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