ClinVar Miner

List of variants studied for Mitochondrial encephalomyopathy; Global developmental delay

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610

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