List of variants reported as pathogenic 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	gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)	rs369437593	0.00006
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)	rs368085185	0.00002
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)	rs1174791046	0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)	rs367683258	0.00001
NM_015909.4(NBAS):c.2950del (p.Ile984fs)	rs776797592
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter)	rs2148225587
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
NM_015909.4(NBAS):c.686dup (p.Ser230fs)	rs759315662
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys)	rs118203992
NM_018006.5(TRMU):c.706-1G>A	rs778799889
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp)	rs118203991
NM_018006.5(TRMU):c.954dup (p.Ala319fs)	rs863224242

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