ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu)
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu)
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys)
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) rs369445642
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg)
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg)
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)
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val)
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)

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