ClinVar Miner

List of variants reported as pathogenic for L-2-hydroxyglutaric aciduria by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678

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