ClinVar Miner

List of variants reported as pathogenic for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	rs879253852

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