ClinVar Miner

List of variants studied for Methylmalonic acidemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00003
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.753+2T>A rs796052006 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993

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