ClinVar Miner

List of variants studied for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242

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