ClinVar Miner

List of variants reported as likely pathogenic for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Total variants: 6
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NM_018006.5(TRMU):c.1102-3C>G rs753039116
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs0
NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) rs766314948
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786

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