ClinVar Miner

List of variants reported as pathogenic for L-2-hydroxyglutaric aciduria by Invitae

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Total variants: 4
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NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)

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