ClinVar Miner

List of variants reported for Vanishing white matter disease by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr) rs762959486 0.00002
NM_001034116.2(EIF2B4):c.866G>T (p.Ser289Ile) rs1681946262

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