ClinVar Miner

List of variants reported as pathogenic for 2-hydroxyglutaric aciduria

Included ClinVar conditions (6):
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Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs) rs749330477 0.00003
NM_005984.5(SLC25A1):c.845G>A (p.Arg282His) rs431905510 0.00002
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424 0.00001
NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val) rs483352910 0.00001
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) rs387907013 0.00001
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) rs267607206 0.00001
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) rs752025180 0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020 0.00001
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala) rs121434360 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
L2HGDH, EX1-9DEL
NC_000002.11:g.(?_238233417)_(242801596_?)del
NC_000002.12:g.(?_241741010)_(241767989_?)del
NC_000014.8:g.(?_50750569)_(50750771_?)del
NC_000014.8:g.(?_50760813)_(50768906_?)del
NC_000014.8:g.(?_50778709)_(50778888_?)del
NC_000014.9:g.(?_50267733)_(50269350_?)del
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly) rs267606870
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.821+1G>A rs781974501
NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly) rs431905509
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1065-13_1196+207del rs1889265791
NM_024884.3(L2HGDH):c.1081del (p.Ala361fs)
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.140+726del rs2139242065
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) rs118204021
NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg)
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) rs1477101414
NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu)
NM_024884.3(L2HGDH):c.256+2T>A
NM_024884.3(L2HGDH):c.408+1G>C rs2030438427
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_024884.3(L2HGDH):c.530_533delinsATT (p.Pro177fs)
NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter) rs1890096157
NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter)
NM_024884.3(L2HGDH):c.853del (p.Tyr285fs) rs748910382
NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter) rs1889521207
NM_024884.3(L2HGDH):c.906+1G>T rs786200870
NM_024884.3(L2HGDH):c.944del (p.Phe315fs)
NM_024884.3(L2HGDH):c.959del (p.Asp320fs) rs2139977488
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs) rs797045506
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1306+1del rs2125158367
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp) rs121434362
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs) rs1699275754
NM_152783.5(D2HGDH):c.293-23A>G rs145731647
NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser) rs121434361
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)
NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)

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