ClinVar Miner

List of variants in gene D2HGDH reported as uncertain significance for D-2-hydroxyglutaric aciduria 1

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Total variants: 102
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HGVS dbSNP
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NM_152783.5(D2HGDH):c.*150C>T
NM_152783.5(D2HGDH):c.*171G>A rs886055849
NM_152783.5(D2HGDH):c.*194G>A rs537045408
NM_152783.5(D2HGDH):c.*253C>T
NM_152783.5(D2HGDH):c.*256G>T
NM_152783.5(D2HGDH):c.*284C>T rs148945152
NM_152783.5(D2HGDH):c.*298C>T
NM_152783.5(D2HGDH):c.*2G>A
NM_152783.5(D2HGDH):c.*321A>G
NM_152783.5(D2HGDH):c.*334C>T
NM_152783.5(D2HGDH):c.*405C>T
NM_152783.5(D2HGDH):c.*461C>T
NM_152783.5(D2HGDH):c.*462G>A
NM_152783.5(D2HGDH):c.*499G>A rs886055851
NM_152783.5(D2HGDH):c.*503C>T rs755235230
NM_152783.5(D2HGDH):c.*51C>T
NM_152783.5(D2HGDH):c.*537G>A
NM_152783.5(D2HGDH):c.*542C>T
NM_152783.5(D2HGDH):c.*553G>T rs886055852
NM_152783.5(D2HGDH):c.*597C>T rs187157907
NM_152783.5(D2HGDH):c.*633T>A
NM_152783.5(D2HGDH):c.*669G>A rs868370456
NM_152783.5(D2HGDH):c.*680G>C rs749772854
NM_152783.5(D2HGDH):c.*687C>T
NM_152783.5(D2HGDH):c.*709G>A
NM_152783.5(D2HGDH):c.*713C>T
NM_152783.5(D2HGDH):c.*714G>A
NM_152783.5(D2HGDH):c.*717C>G rs555898820
NM_152783.5(D2HGDH):c.*87C>T rs546752536
NM_152783.5(D2HGDH):c.-102G>A
NM_152783.5(D2HGDH):c.-105G>A
NM_152783.5(D2HGDH):c.-132C>T rs886055846
NM_152783.5(D2HGDH):c.-135C>A
NM_152783.5(D2HGDH):c.-141C>T rs886055845
NM_152783.5(D2HGDH):c.-37C>T rs773503026
NM_152783.5(D2HGDH):c.-45C>T
NM_152783.5(D2HGDH):c.-83C>T
NM_152783.5(D2HGDH):c.-92-2A>T rs1559333243
NM_152783.5(D2HGDH):c.-93+15C>T
NM_152783.5(D2HGDH):c.-98T>G rs886055847
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln)
NM_152783.5(D2HGDH):c.1064G>A (p.Gly355Asp)
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1141-12C>T
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601
NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys) rs138598929
NM_152783.5(D2HGDH):c.1220C>T (p.Pro407Leu)
NM_152783.5(D2HGDH):c.1252C>G (p.Leu418Val)
NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His) rs199908032
NM_152783.5(D2HGDH):c.1257C>T (p.Arg419=)
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His)
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met)
NM_152783.5(D2HGDH):c.1306+15G>A
NM_152783.5(D2HGDH):c.1306+7G>A
NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met)
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro) rs1575352566
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs)
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=) rs763276027
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898
NM_152783.5(D2HGDH):c.1502T>C (p.Leu501Pro) rs747738269
NM_152783.5(D2HGDH):c.1505A>G (p.Lys502Arg) rs751788334
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002
NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg) rs770361030
NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val)
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434
NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys) rs752903016
NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro) rs797045509
NM_152783.5(D2HGDH):c.319C>T (p.Arg107Trp)
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)
NM_152783.5(D2HGDH):c.350+10_350+12del
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile) rs143231454
NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr)
NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys) rs201926349
NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp)
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.5(D2HGDH):c.540T>C (p.Tyr180=) rs752626142
NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)
NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln)
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217
NM_152783.5(D2HGDH):c.634C>T (p.Arg212Trp)
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)
NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met)
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
NM_152783.5(D2HGDH):c.854-7G>A rs1575278743
NM_152783.5(D2HGDH):c.854-8C>T rs758727451
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702
NM_152783.5(D2HGDH):c.923C>G (p.Ser308Cys) rs886055848
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359
NM_152783.5(D2HGDH):c.998-2A>G rs1559380854

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