ClinVar Miner

List of variants studied for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Total variants: 105
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HGVS dbSNP
NM_018006.4(TRMU):c.-113G>C rs182529223
NM_018006.4(TRMU):c.-117G>C rs116519615
NM_018006.4(TRMU):c.-128A>G rs141601555
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.-178G>A rs114587018
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.*124G>C rs116303153
NM_018006.5(TRMU):c.*149G>A rs542744986
NM_018006.5(TRMU):c.*151C>T rs116347546
NM_018006.5(TRMU):c.*210G>C rs141551983
NM_018006.5(TRMU):c.*266_*267AG[1] rs149055127
NM_018006.5(TRMU):c.*276G>A rs13585
NM_018006.5(TRMU):c.*28G>A rs0
NM_018006.5(TRMU):c.*320A>G rs0
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.*51C>T rs111830256
NM_018006.5(TRMU):c.*8G>C rs55905826
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.-44G>A rs370964036
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) rs0
NM_018006.5(TRMU):c.1018+9C>T rs373346869
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) rs138586787
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881
NM_018006.5(TRMU):c.1102-3C>G rs753039116
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs0
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854
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.1176G>A (p.Thr392=) rs34591580
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs0
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) rs0
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) rs0
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.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751
NM_018006.5(TRMU):c.248+9G>A rs369189631
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
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.272A>G (p.Lys91Arg) rs138044544
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) rs118203992
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525
NM_018006.5(TRMU):c.408A>T (p.Glu136Asp) rs0
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206
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.479C>T (p.Ala160Val) rs35338668
NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) rs756794418
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382
NM_018006.5(TRMU):c.624A>T (p.Arg208Ser) rs0
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs0
NM_018006.5(TRMU):c.705+10G>A rs0
NM_018006.5(TRMU):c.705+4C>T rs372122484
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258
NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) rs766314948
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.773-4G>A rs0
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_018006.5(TRMU):c.82+8G>A rs1601929107
NM_018006.5(TRMU):c.83-5C>T rs758628820
NM_018006.5(TRMU):c.83-9C>T rs0
NM_018006.5(TRMU):c.834C>T (p.Tyr278=) rs772935887
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827
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.880C>T (p.Arg294Trp) rs773745635
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
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.910C>G (p.Leu304Val) rs200777988
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420
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.954dup (p.Ala319fs) rs863224242
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) rs373437260
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986
TRMU, IVS11AS, C-G, -3 rs0
TRMU, IVS3AS, G-A, -1 rs0

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