ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
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.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_018006.5(TRMU):c.*51C>T rs111830256 0.00087
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
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.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018006.5(TRMU):c.248+9G>A rs369189631 0.00006
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.1242T>G (p.Gly414=) rs780243289 0.00002
NM_018006.5(TRMU):c.1125C>T (p.Asp375=) rs779022860 0.00001
NM_018006.5(TRMU):c.*266AG[1] rs149055127
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) rs760435544
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) rs760435544
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.27C>T (p.Cys9=) rs1297282365

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