List of variants reported as pathogenic for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
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

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