ClinVar Miner

List of variants reported as uncertain significance 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: 46
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HGVS dbSNP
NM_018006.4(TRMU):c.-113G>C rs182529223
NM_018006.4(TRMU):c.-147C>A rs190351151
NM_018006.4(TRMU):c.-151G>A rs886057608
NM_018006.4(TRMU):c.-161A>C rs886057607
NM_018006.4(TRMU):c.-190A>T rs538113553
NM_018006.4(TRMU):c.-279G>A rs187162795
NM_018006.4(TRMU):c.-281G>A rs148373924
NM_018006.4(TRMU):c.-312G>A rs143463292
NM_018006.4(TRMU):c.-87T>C rs184994382
NM_018006.5(TRMU):c.*105A>G rs0
NM_018006.5(TRMU):c.*113G>A rs747510857
NM_018006.5(TRMU):c.*149G>A rs542744986
NM_018006.5(TRMU):c.*28G>A rs0
NM_018006.5(TRMU):c.*320A>G rs0
NM_018006.5(TRMU):c.-15T>C rs764076380
NM_018006.5(TRMU):c.-19G>C rs886057609
NM_018006.5(TRMU):c.-35G>A rs775079522
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) rs0
NM_018006.5(TRMU):c.1018+9C>T rs373346869
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) rs138586787
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs0
NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) rs0
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335
NM_018006.5(TRMU):c.175A>G (p.Arg59Gly) rs0
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751
NM_018006.5(TRMU):c.256T>C (p.Leu86=) rs0
NM_018006.5(TRMU):c.271A>G (p.Lys91Glu) rs886057610
NM_018006.5(TRMU):c.461G>A (p.Arg154Gln) rs200963587
NM_018006.5(TRMU):c.469G>A (p.Val157Ile) rs201755743
NM_018006.5(TRMU):c.705+10G>A rs0
NM_018006.5(TRMU):c.705+4C>T rs372122484
NM_018006.5(TRMU):c.773-4G>A rs0
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663
NM_018006.5(TRMU):c.865G>A (p.Val289Met) rs886057611
NM_018006.5(TRMU):c.873+11C>T rs373365569
NM_018006.5(TRMU):c.873+12G>A rs540183174
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs0
NM_018006.5(TRMU):c.941C>G (p.Ala314Gly) rs760149424
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) rs150128284
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) rs373437260
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569

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