ClinVar Miner

List of variants in gene MMUT reported as pathogenic for METHYLMALONIC ACIDURIA, mut(-) TYPE

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Gene type:
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Total variants: 3
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HGVS dbSNP
MUT, 2-BP DEL, 769CA
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253

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