ClinVar Miner

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

Included ClinVar conditions (5):

Combined d-2- and l-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
L-2-hydroxyglutaric aciduria

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Total variants: 1

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HGVS	dbSNP
NM_152783.5(D2HGDH):c.853+2T>C	rs1559364994

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