List of variants in gene EIF2B5 reported as pathogenic for leukoencephalopathy with vanishing white matter 1

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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: 23

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HGVS	dbSNP	gnomAD frequency
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)	rs113994049	0.00027
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)	rs113994068	0.00005
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys)	rs113994047	0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)	rs28939717	0.00004
NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)	rs113994063	0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	rs113994064	0.00003
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)	rs113994048	0.00002
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)	rs545593935	0.00001
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)	rs113994078	0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)	rs113994054	0.00001
NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser)	rs962701773	0.00001
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro)	rs113994069
NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter)
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu)	rs113994080
NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter)	rs753507995
NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs)
NM_003907.3(EIF2B5):c.1930G>T (p.Glu644Ter)
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)	rs1064794256
NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser)	rs1713781736
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His)	rs958193703
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)	rs113994057
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)	rs113994060
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)	rs200143780

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