ClinVar Miner

List of variants in gene D2HGDH studied for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NC_000002.12:g.(?_241741010)_(241767989_?)del
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.*254G>A rs6713318
NM_152783.4(D2HGDH):c.*266G>A rs145823152
NM_152783.4(D2HGDH):c.*26C>T rs141211991
NM_152783.4(D2HGDH):c.*27C>T rs150707660
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.*427G>A rs142873084
NM_152783.4(D2HGDH):c.*449C>T rs4234096
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.*661C>T rs113372064
NM_152783.4(D2HGDH):c.*669G>A rs868370456
NM_152783.4(D2HGDH):c.*680G>C rs749772854
NM_152783.4(D2HGDH):c.*688G>A rs6716743
NM_152783.4(D2HGDH):c.*717C>G rs555898820
NM_152783.4(D2HGDH):c.*778C>T rs6746151
NM_152783.4(D2HGDH):c.*801A>G rs35671465
NM_152783.4(D2HGDH):c.*87C>T rs546752536
NM_152783.4(D2HGDH):c.*93T>C rs11552660
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.-91C>G rs62191976
NM_152783.4(D2HGDH):c.-92-4C>G rs146482048
NM_152783.4(D2HGDH):c.-98T>G rs886055847
NM_152783.4(D2HGDH):c.-99A>G rs7370843
NM_152783.4(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.4(D2HGDH):c.1027delT (p.Ser343Glnfs) rs797045506
NM_152783.4(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.4(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.4(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.4(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.4(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
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.1276G>A (p.Ala426Thr) rs146578303
NM_152783.4(D2HGDH):c.1306+2T>C rs797045507
NM_152783.4(D2HGDH):c.1315A>G (p.Asn439Asp) rs121434362
NM_152783.4(D2HGDH):c.1331T>C (p.Val444Ala) rs121434360
NM_152783.4(D2HGDH):c.1353delC (p.Ser452Argfs)
NM_152783.4(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.4(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
NM_152783.4(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
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.164G>A (p.Arg55Gln) rs77940364
NM_152783.4(D2HGDH):c.292+9G>A rs148813816
NM_152783.4(D2HGDH):c.293-23A>G
NM_152783.4(D2HGDH):c.325_326dup (p.Glu110Argfs)
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.43C>G (p.Arg15Gly) rs4675887
NM_152783.4(D2HGDH):c.440T>G (p.Ile147Ser) rs121434361
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.566C>T (p.Pro189Leu) rs587783517
NM_152783.4(D2HGDH):c.567G>A (p.Pro189=) rs140447217
NM_152783.4(D2HGDH):c.642delT (p.Arg215Aspfs)
NM_152783.4(D2HGDH):c.685-2A>G
NM_152783.4(D2HGDH):c.685-9T>C rs4234097
NM_152783.4(D2HGDH):c.853+2T>C
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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