ClinVar Miner

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

Included ClinVar conditions (3):
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Total variants: 20
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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_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NC_000002.11:g.(?_238233417)_(242801596_?)del
NC_000002.12:g.(?_241741010)_(241767989_?)del
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly) rs267606870
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) rs797045506
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1306+1del rs2125158367
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp) rs121434362
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs) rs1699275754
NM_152783.5(D2HGDH):c.293-23A>G rs145731647
NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser) rs121434361
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)
NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)

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