List of variants studied for Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val)	rs1583476115	0.00001
NM_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val)	rs2128888556
NM_014413.4(EIF2AK1):c.1447A>T (p.Arg483Ter)
NM_014413.4(EIF2AK1):c.1510G>T (p.Gly504Ter)
NM_014413.4(EIF2AK1):c.1520A>G (p.Tyr507Cys)
NM_014413.4(EIF2AK1):c.411+1G>A

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