List of variants in gene EEF2 studied for cerebellar disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001961.4(EEF2):c.1632T>C (p.His544=)	rs36526	0.86134
NM_001961.4(EEF2):c.1150+15T>C	rs36525	0.86128
NM_001961.4(EEF2):c.1130C>T (p.Pro377Leu)
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile)	rs2145360047
NM_001961.4(EEF2):c.1480A>T (p.Met494Leu)
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)	rs587777052
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)	rs945307250
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys)	rs2145355764
NM_001961.4(EEF2):c.442del (p.Ala148fs)
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
NM_001961.4(EEF2):c.884A>T (p.Asp295Val)
NM_001961.4(EEF2):c.949_950delinsAG (p.Glu317Arg)	rs2145362551

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