ClinVar Miner

List of variants studied for Leukoencephalopathy with vanishing white matter 1 by Solve-RD Consortium

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)

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