ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.4(TRMU):c.-178G>A rs114587018 0.02983
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.4(TRMU):c.-117G>C rs116519615 0.02778
NM_018006.4(TRMU):c.-128A>G rs141601555 0.01616
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_018006.5(TRMU):c.*51C>T rs111830256 0.00087
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_018006.5(TRMU):c.*266AG[1] rs149055127

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