ClinVar Miner

List of variants reported as likely pathogenic for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)	rs565348836	0.00001
NM_000255.4(MMUT):c.1956+2T>C	rs750619189
NM_000255.4(MMUT):c.915G>T (p.Leu305Phe)

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