ClinVar Miner

List of variants reported as benign for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Illumina Clinical Services Laboratory,Illumina

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Total variants: 17
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HGVS dbSNP
NM_018006.5(TRMU):c.*124G>C rs116303153
NM_018006.5(TRMU):c.*151C>T rs116347546
NM_018006.5(TRMU):c.*210G>C rs141551983
NM_018006.5(TRMU):c.*276G>A rs13585
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.*8G>C rs55905826
NM_018006.5(TRMU):c.-44G>A rs370964036
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986

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