ClinVar Miner

List of variants in gene L2HGDH reported as pathogenic for L-2-hydroxyglutaric aciduria

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Total variants: 29
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HGVS dbSNP gnomAD frequency
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
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_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.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

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