ClinVar Miner

List of variants studied for D-2-hydroxyglutaric aciduria 1 by Invitae

Included ClinVar conditions (2):
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Total variants: 66
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HGVS dbSNP
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NC_000002.12:g.(?_241741010)_(241767989_?)del
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln)
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1064G>A (p.Gly355Asp)
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=) rs758849873
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met)
NM_152783.5(D2HGDH):c.1306+10G>A
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371
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.1377C>A (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs)
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys) rs752903016
NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)
NM_152783.5(D2HGDH):c.228C>T (p.Gly76=) rs771597564
NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro) rs797045509
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_152783.5(D2HGDH):c.293-23A>T rs145731647
NM_152783.5(D2HGDH):c.327G>A (p.Ser109=) rs374304979
NM_152783.5(D2HGDH):c.351-8C>T rs368141783
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr)
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.549A>T (p.Glu183Asp)
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.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377
NM_152783.5(D2HGDH):c.685-2A>G rs753528947
NM_152783.5(D2HGDH):c.685-9T>C rs4234097
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met)
NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp) rs146696295
NM_152783.5(D2HGDH):c.840C>T (p.Asn280=)
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994
NM_152783.5(D2HGDH):c.924T>G (p.Ser308=)
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267

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