ClinVar Miner

List of variants studied for Leukoencephalopathy with vanishing white matter 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048 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_001414.4(EIF2B1):c.752A>G (p.Lys251Arg)
NM_001414.4(EIF2B1):c.875C>G (p.Thr292Arg)
NM_003907.3(EIF2B5):c.1832C>T (p.Pro611Leu)
NM_003907.3(EIF2B5):c.2065G>A (p.Asp689Asn)
NM_003907.3(EIF2B5):c.2093G>A (p.Arg698His)
NM_003907.3(EIF2B5):c.633G>C (p.Arg211Ser)
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His) rs113994060

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