List of variants reported as pathogenic for D-2-hydroxyglutaric aciduria by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152783.5(D2HGDH):c.685-2A>G	rs753528947	0.00011
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs)	rs749330477	0.00003
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala)	rs121434360	0.00001
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly)	rs267606870
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr)	rs267606759
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp)	rs121434362
NM_152783.5(D2HGDH):c.293-23A>G	rs145731647
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser)	rs121434361

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