List of variants reported as pathogenic for leukoencephalopathy with vanishing white matter 2

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00029
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)	rs104894425	0.00007
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)	rs397514648	0.00003
NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe)	rs104894428	0.00002
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)	rs104894427	0.00001
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)	rs372548739	0.00001
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)	rs104894426	0.00001
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)	rs113994014

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