List of variants in gene EIF2B4 reported as likely 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	rs113994028	0.00002
NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys)	rs1332546889
NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)

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