ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 7
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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.1126T>C (p.Tyr376His)
NM_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val) rs2128888556
NM_014413.4(EIF2AK1):c.1447A>T (p.Arg483Ter) rs2536875284
NM_014413.4(EIF2AK1):c.1510G>T (p.Gly504Ter) rs566395713
NM_014413.4(EIF2AK1):c.1520A>G (p.Tyr507Cys) rs759847990
NM_014413.4(EIF2AK1):c.411+1G>A rs2536921587

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