ClinVar Miner

List of variants in gene MMUT studied for METHYLMALONIC ACIDURIA, mut(-) TYPE

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.689_690del (p.Thr230fs) rs2127419920

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