ClinVar Miner

List of variants in gene MMAA reported as pathogenic for Methylmalonic acidemia

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Total variants: 4
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HGVS dbSNP
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934

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