ClinVar Miner

List of variants reported as pathogenic for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 31
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HGVS dbSNP
L2HGDH, EX1-9 DEL
NC_000002.11:g.(?_242680425)_(242707404_?)del
NM_002168.3(IDH2):c.418C>G (p.Arg140Gly) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val) rs483352910
NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly) rs431905509
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509
NM_005984.5(SLC25A1):c.845G>A (p.Arg282His) rs431905510
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) rs387907013
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) rs118204021
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter)
NM_024884.3(L2HGDH):c.256+1G>A rs150299874
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) rs267607206
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020
NM_024884.3(L2HGDH):c.906+1G>T rs786200870
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) rs797045506
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp) rs121434362
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala) rs121434360
NM_152783.5(D2HGDH):c.293-23A>G
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs) rs749330477
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser) rs121434361
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.685-2A>G

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