List of variants reported as likely pathogenic for leukoencephalopathy with vanishing white matter 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014239.4(EIF2B2):c.3G>T (p.Met1Ile)	rs767933078	0.00002
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)	rs113994016	0.00002
NM_014239.4(EIF2B2):c.285-1G>A	rs373906805	0.00001
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)	rs104894427	0.00001
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)	rs104894426	0.00001
NM_014239.4(EIF2B2):c.544_545insA (p.Ala182fs)
NM_014239.4(EIF2B2):c.570del (p.Ile190fs)	rs755436800
NM_014239.4(EIF2B2):c.832-2A>G

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