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

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Total variants: 23

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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.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

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