ClinVar Miner

List of variants studied for L-2-hydroxyglutaric aciduria by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) rs752025180 0.00001
NM_024884.3(L2HGDH):c.1322C>T (p.Pro441Leu)
NM_024884.3(L2HGDH):c.895A>G (p.Asn299Asp)

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