ClinVar Miner

List of variants reported as pathogenic for D-2-hydroxyglutaric aciduria 1 by Invitae

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs) rs749330477 0.00003
NC_000002.11:g.(?_238233417)_(242801596_?)del
NC_000002.12:g.(?_241741010)_(241767989_?)del
NM_152783.5(D2HGDH):c.1306+1del rs2125158367
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs) rs1699275754
NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)

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