List of variants reported as likely pathogenic for Leukoencephalopathy with vanishing white matter 1

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)	rs104894425	0.00007
NM_001414.4(EIF2B1):c.252+1G>A	rs113994006	0.00006
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	rs113994028	0.00002
NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)	rs538917969	0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	rs752636698	0.00001
NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys)	rs1332546889
NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)
NM_001414.4(EIF2B1):c.521_522del (p.Pro174fs)
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)	rs113994057

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