List of variants in gene EEF1A2 reported as uncertain significance for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001958.5(EEF1A2):c.739C>T (p.Arg247Cys)	rs1325353717	0.00001
NM_001958.5(EEF1A2):c.1029+3G>T	rs111392970
NM_001958.5(EEF1A2):c.1190G>A (p.Gly397Glu)	rs2145938753
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg)	rs372257864
NM_001958.5(EEF1A2):c.350C>T (p.Ala117Val)	rs866429985
NM_001958.5(EEF1A2):c.676G>C (p.Val226Leu)
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met)	rs1064795618
NM_001958.5(EEF1A2):c.778G>A (p.Gly260Ser)
NM_001958.5(EEF1A2):c.863A>T (p.Glu288Val)	rs1555883501
NM_001958.5(EEF1A2):c.947C>G (p.Ser316Trp)

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