ClinVar Miner

List of variants in gene L2HGDH reported as uncertain significance for L-2-hydroxyglutaric aciduria

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Total variants: 9
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NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) rs140209047
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)

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