ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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)

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