ClinVar Miner

List of variants reported as pathogenic for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	rs761525156	0.00002
NM_000255.4(MMUT):c.1677-1G>C	rs754369323

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