ClinVar Miner

List of variants reported as pathogenic for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	rs200596762	0.00003
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)	rs1227030642

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