ClinVar Miner

List of variants reported as uncertain significance for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Included ClinVar conditions (2):
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_018006.4(TRMU):c.-279G>A rs187162795 0.01295
NM_018006.4(TRMU):c.-281G>A rs148373924 0.00662
NM_018006.4(TRMU):c.-87T>C rs184994382 0.00164
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_018006.4(TRMU):c.-147C>A rs190351151 0.00097
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.*149G>A rs542744986 0.00022
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_018006.5(TRMU):c.*113G>A rs747510857 0.00019
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val) rs111608902 0.00016
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.910C>G (p.Leu304Val) rs200777988 0.00011
NM_018006.5(TRMU):c.952C>T (p.Pro318Ser) rs150128284 0.00010
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) rs373437260 0.00010
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.83-9C>T rs374612111 0.00008
NM_018006.5(TRMU):c.1018+9C>T rs373346869 0.00006
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 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.834C>T (p.Tyr278=) rs772935887 0.00004
NM_018006.5(TRMU):c.873+12G>A rs540183174 0.00004
NM_018006.5(TRMU):c.925C>T (p.Arg309Cys) rs764958201 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.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) rs199943967 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.497C>A (p.Ala166Glu) rs756794418 0.00001
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.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.-35G>A rs775079522
NM_018006.5(TRMU):c.-454_-452del
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.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
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.289C>T (p.Pro97Ser) rs886042713
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
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.705+10G>A rs1440658479
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.82+8G>A rs1601929107
NM_018006.5(TRMU):c.865G>A (p.Val289Met) rs886057611
NM_018006.5(TRMU):c.941C>T (p.Ala314Val) rs760149424
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) rs150128284

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