ClinVar Miner

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

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Total variants: 6
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NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) rs118203992
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022
TRMU, IVS11AS, C-G, -3 rs0
TRMU, IVS3AS, G-A, -1 rs0

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