ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 15
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NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) rs387907013
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) rs118204021
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512
NM_024884.3(L2HGDH):c.256+1G>A rs150299874
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) rs267607206
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020
NM_024884.3(L2HGDH):c.906+1G>T rs786200870

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