ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091

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