ClinVar Miner

List of variants in gene D2HGDH reported as uncertain significance for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_152783.3(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.3(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.4(D2HGDH):c.*171G>A rs886055849
NM_152783.4(D2HGDH):c.*194G>A rs537045408
NM_152783.4(D2HGDH):c.*26C>T rs141211991
NM_152783.4(D2HGDH):c.*284C>T rs148945152
NM_152783.4(D2HGDH):c.*410G>A rs568821876
NM_152783.4(D2HGDH):c.*411dupG rs113265004
NM_152783.4(D2HGDH):c.*474C>T rs570372209
NM_152783.4(D2HGDH):c.*499G>A rs886055851
NM_152783.4(D2HGDH):c.*503C>T rs755235230
NM_152783.4(D2HGDH):c.*553G>T rs886055852
NM_152783.4(D2HGDH):c.*597C>T rs187157907
NM_152783.4(D2HGDH):c.*669G>A rs868370456
NM_152783.4(D2HGDH):c.*680G>C rs749772854
NM_152783.4(D2HGDH):c.*717C>G rs555898820
NM_152783.4(D2HGDH):c.*87C>T rs546752536
NM_152783.4(D2HGDH):c.-132C>T rs886055846
NM_152783.4(D2HGDH):c.-141C>T rs886055845
NM_152783.4(D2HGDH):c.-37C>T rs773503026
NM_152783.4(D2HGDH):c.-92-4C>G rs146482048
NM_152783.4(D2HGDH):c.-98T>G rs886055847
NM_152783.4(D2HGDH):c.1140+8G>A rs369135156
NM_152783.4(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601
NM_152783.4(D2HGDH):c.1199A>G (p.Tyr400Cys) rs138598929
NM_152783.4(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.4(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.4(D2HGDH):c.1353delC (p.Ser452Argfs)
NM_152783.4(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.4(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898
NM_152783.4(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.4(D2HGDH):c.1502T>C (p.Leu501Pro) rs747738269
NM_152783.4(D2HGDH):c.1505A>G (p.Lys502Arg) rs751788334
NM_152783.4(D2HGDH):c.1523A>G (p.Lys508Arg) rs770361030
NM_152783.4(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434
NM_152783.4(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.4(D2HGDH):c.424G>A (p.Val142Ile) rs143231454
NM_152783.4(D2HGDH):c.454C>T (p.Arg152Cys) rs201926349
NM_152783.4(D2HGDH):c.540T>C (p.Tyr180=) rs752626142
NM_152783.4(D2HGDH):c.567G>A (p.Pro189=) rs140447217
NM_152783.4(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702
NM_152783.4(D2HGDH):c.923C>G (p.Ser308Cys) rs886055848
NM_152783.5(D2HGDH):c.-92-2A>T
NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His)
NM_152783.5(D2HGDH):c.998-2A>G

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