ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
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.1164G>A (p.Pro388=) rs202047181
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) rs0
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) rs0
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335
NM_018006.5(TRMU):c.248+9G>A rs369189631
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988

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