ClinVar Miner

List of variants reported as benign for L-2-hydroxyglutaric aciduria

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Total variants: 7
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NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=)
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser)
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558

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