ClinVar Miner

List of variants studied for D-2-hydroxyglutaric aciduria 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371 0.00267
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00018
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434 0.00007
NM_152783.5(D2HGDH):c.1505A>G (p.Lys502Arg) rs751788334 0.00001
NM_152783.5(D2HGDH):c.1055A>G (p.Glu352Gly)

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