ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP
NC_000002.12:g.(?_241735205)_(241767989_?)dup
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.108C>G (p.Cys36Trp)
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met)
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.1453G>A (p.Val485Ile) rs375162898
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.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.549A>T (p.Glu183Asp)
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517
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)

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