ClinVar Miner

List of variants reported as likely benign for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Illumina Clinical Services Laboratory,Illumina

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Total variants: 10
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NM_018006.4(TRMU):c.-117G>C rs116519615
NM_018006.4(TRMU):c.-128A>G rs141601555
NM_018006.4(TRMU):c.-178G>A rs114587018
NM_018006.5(TRMU):c.*266_*267AG[1] rs149055127
NM_018006.5(TRMU):c.*51C>T rs111830256
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988

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