ClinVar Miner

List of variants studied for 2-hydroxyglutaric aciduria by Invitae

Included ClinVar conditions (5):
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Total variants: 26
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HGVS dbSNP
NC_000002.11:g.(?_242680425)_(242707404_?)del
NM_002168.3(IDH2):c.1050C>T (p.Thr350=) rs11540478
NM_002168.3(IDH2):c.1129C>T (p.Arg377Cys)
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) rs369445642
NM_002168.3(IDH2):c.373+9G>T rs755607312
NM_002168.3(IDH2):c.588C>G (p.Phe196Leu)
NM_002168.3(IDH2):c.844A>G (p.Lys282Glu)
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.208C>T (p.Arg70Ter)
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg)
NM_024884.3(L2HGDH):c.409-4G>T rs767524925
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe)
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp)
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558
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.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994

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