List of variants reported as uncertain significance for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Natera, Inc.

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val)	rs111608902	0.00016
NM_018006.5(TRMU):c.910C>G (p.Leu304Val)	rs200777988	0.00011
NM_018006.5(TRMU):c.952C>T (p.Pro318Ser)	rs150128284	0.00010
NM_018006.5(TRMU):c.83-9C>T	rs374612111	0.00008
NM_018006.5(TRMU):c.1018+9C>T	rs373346869	0.00006
NM_018006.5(TRMU):c.834C>T (p.Tyr278=)	rs772935887	0.00004
NM_018006.5(TRMU):c.925C>T (p.Arg309Cys)	rs764958201	0.00004
NM_018006.5(TRMU):c.673G>A (p.Gly225Arg)	rs1253028633	0.00001
NM_018006.5(TRMU):c.814G>A (p.Gly272Ser)	rs1230867178	0.00001
NM_018006.5(TRMU):c.83-5C>T	rs758628820	0.00001
NM_018006.5(TRMU):c.408A>T (p.Glu136Asp)	rs2078260817
NM_018006.5(TRMU):c.624A>T (p.Arg208Ser)	rs2078383974
NM_018006.5(TRMU):c.773-12_773-9del	rs863224241
NM_018006.5(TRMU):c.82+8G>A	rs1601929107
NM_018006.5(TRMU):c.941C>T (p.Ala314Val)	rs760149424

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