ClinVar Miner

List of variants reported as pathogenic for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)	rs1220930025	0.00006
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)	rs201941476	0.00003

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