ClinVar Miner

List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00003
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.753+3A>G rs776400008

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