List of variants in gene EIF2AK2 reported as pathogenic for leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)	rs1572996700
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)	rs1363544084
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser)	rs1675334390
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe)	rs1573029592
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser)	rs1675604381

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