ClinVar Miner

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

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.*276G>A rs13585 0.24909
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.*151C>T rs116347546 0.03272
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_018006.4(TRMU):c.-178G>A rs114587018 0.02983
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_018006.4(TRMU):c.-117G>C rs116519615 0.02778
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_018006.4(TRMU):c.-128A>G rs141601555 0.01616
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_018006.5(TRMU):c.*124G>C rs116303153 0.01300
NM_018006.4(TRMU):c.-279G>A rs187162795 0.01295
NM_018006.5(TRMU):c.*210G>C rs141551983 0.01148
NM_018006.4(TRMU):c.-281G>A rs148373924 0.00662
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_018006.4(TRMU):c.-87T>C rs184994382 0.00164
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_018006.5(TRMU):c.-147C>A rs190351151 0.00097
NM_018006.5(TRMU):c.*51C>T rs111830256 0.00087
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_018006.5(TRMU):c.*149G>A rs542744986 0.00022
NM_018006.5(TRMU):c.-44G>A rs370964036 0.00021
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_018006.4(TRMU):c.-312G>A rs143463292 0.00015
NM_018006.4(TRMU):c.-161A>C rs886057607 0.00014
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) rs373437260 0.00010
NM_018006.5(TRMU):c.*113G>A rs747510857 0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.-19G>C rs886057609 0.00008
NM_018006.5(TRMU):c.1018+9C>T rs373346869 0.00006
NM_018006.5(TRMU):c.873+11C>T rs373365569 0.00005
NM_018006.4(TRMU):c.-190A>T rs538113553 0.00004
NM_018006.5(TRMU):c.*28G>A rs776214918 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.705+4C>T rs372122484 0.00004
NM_018006.5(TRMU):c.773-4G>A rs368787983 0.00004
NM_018006.5(TRMU):c.873+12G>A rs540183174 0.00004
NM_018006.4(TRMU):c.-151G>A rs886057608 0.00003
NM_018006.5(TRMU):c.-15T>C rs764076380 0.00003
NM_018006.5(TRMU):c.461G>A (p.Arg154Gln) rs200963587 0.00003
NM_018006.5(TRMU):c.469G>A (p.Val157Ile) rs201755743 0.00003
NM_018006.5(TRMU):c.*320A>G rs1476756148 0.00002
NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) rs199943967 0.00002
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569 0.00002
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) rs370928571 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.941C>G (p.Ala314Gly) rs760149424 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_018006.4(TRMU):c.-113G>C rs182529223
NM_018006.5(TRMU):c.*105A>G rs2078637723
NM_018006.5(TRMU):c.*266AG[1] rs149055127
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.-35G>A rs775079522
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) rs138586787
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.175A>G (p.Arg59Gly) rs2078020035
NM_018006.5(TRMU):c.256T>C (p.Leu86=) rs2078169664
NM_018006.5(TRMU):c.271A>G (p.Lys91Glu) rs886057610
NM_018006.5(TRMU):c.705+10G>A rs1440658479
NM_018006.5(TRMU):c.865G>A (p.Val289Met) rs886057611
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) rs150128284

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