ClinVar Miner

List of variants reported as pathogenic for L-2-hydroxyglutaric aciduria by Invitae

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
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.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.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.530_533delinsATT (p.Pro177fs)
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.944del (p.Phe315fs)

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