ClinVar Miner

List of variants studied for 2-hydroxyglutaric aciduria by OMIM

Included ClinVar conditions (5):
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Total variants: 22
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HGVS dbSNP
L2HGDH, EX1-9DEL
NM_001289910.1(IDH2):c.262C>G (p.Arg88Gly) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) 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.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) rs118204021
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) rs267607206
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020
NM_024884.3(L2HGDH):c.906+1G>T rs786200870
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 rs145731647
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.685-2A>G rs753528947

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