List of variants studied for leukoencephalopathy with vanishing white matter 5 by OMIM

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Total variants: 12

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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.271A>G (p.Thr91Ala)	rs28939717	0.00004
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	rs113994064	0.00003
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)	rs113994053	0.00001
NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)	rs113994055	0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)	rs113994054	0.00001
NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu)	rs113994061	0.00001
NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val)	rs113994074
NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val)	rs113994043
NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys)	rs121908541
NM_003907.3(EIF2B5):c.1882T>C (p.Trp628Arg)	rs28937596
NM_003907.3(EIF2B5):c.808G>C (p.Asp270His)	rs397514646

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