ClinVar Miner

List of variants studied for L-2-hydroxyglutaric aciduria by Centogene AG - the Rare Disease Company

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.1065-13_1196+207del rs1889265791
NM_024884.3(L2HGDH):c.1199G>A (p.Gly400Asp) rs2139922983

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