ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs0
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.718C>T (p.Arg240Ter) rs367683258
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
TRMU, IVS11AS, C-G, -3 rs0
TRMU, IVS3AS, G-A, -1 rs0

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