ClinVar Miner

List of variants studied for L-2-hydroxyglutaric aciduria by Genetic Services Laboratory, University of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903 0.00002
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390

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