ClinVar Miner

List of variants in gene LIAS reported as uncertain significance for Lipoic acid synthetase deficiency

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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499 0.00016
NM_006859.4(LIAS):c.393+4G>A rs368453789 0.00016
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser) rs146513468 0.00011
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) rs374709255 0.00008
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu) rs369125654 0.00006
NM_006859.4(LIAS):c.386C>T (p.Thr129Met) rs142293392 0.00005
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn) rs199942447 0.00004
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) rs747124026 0.00004
NM_006859.4(LIAS):c.779G>A (p.Arg260His) rs367701436 0.00004
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser) rs761295906 0.00003
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) rs74528014 0.00003
NM_006859.4(LIAS):c.877A>G (p.Met293Val) rs943564525 0.00003
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg) rs185737442 0.00002
NM_006859.4(LIAS):c.403G>C (p.Asp135His) rs772011702 0.00002
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu) rs1328126199 0.00002
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg) rs1375530921 0.00002
NM_006859.4(LIAS):c.890G>A (p.Arg297His) rs756021613 0.00002
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe) rs771693497 0.00001
NM_006859.4(LIAS):c.1048C>T (p.Arg350Cys) rs760106768 0.00001
NM_006859.4(LIAS):c.1049G>A (p.Arg350His) rs779790258 0.00001
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) rs763606110 0.00001
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) rs1184621128 0.00001
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) rs1172950083 0.00001
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile) rs1230898917 0.00001
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln) rs773238728 0.00001
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp) rs753615027 0.00001
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys) rs754927642 0.00001
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg) rs778779575 0.00001
NM_006859.4(LIAS):c.425G>A (p.Arg142Lys) rs760870251 0.00001
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly) rs977337132 0.00001
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr) rs751421705 0.00001
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile) rs1485721291 0.00001
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs1553934355 0.00001
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala) rs1210720598 0.00001
NM_006859.4(LIAS):c.589G>A (p.Val197Ile) rs143321910 0.00001
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser) rs1196873747 0.00001
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808 0.00001
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln) rs570807277 0.00001
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp) rs529501318 0.00001
NM_006859.4(LIAS):c.706C>T (p.His236Tyr) rs1426782379 0.00001
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667 0.00001
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp) rs775053206 0.00001
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu) rs1427248293 0.00001
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699 0.00001
NM_006859.4(LIAS):c.872C>T (p.Ala291Val) rs769256159 0.00001
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr) rs774997711 0.00001
NM_006859.4(LIAS):c.884C>T (p.Ala295Val) rs1028624548 0.00001
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe) rs796052701 0.00001
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly) rs1206469888 0.00001
NM_006859.4(LIAS):c.930G>A (p.Met310Ile) rs796052700 0.00001
NM_006859.4(LIAS):c.954+2dup rs1744972353 0.00001
NM_006859.4(LIAS):c.988T>C (p.Tyr330His) rs1481336454 0.00001
NC_000004.11:g.(?_39460738)_(39478735_?)dup
NM_001363700.2(LIAS):c.299+1682_299+1690del rs776064587
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp) rs1745057681
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His) rs1745058560
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006859.4(LIAS):c.1112A>T (p.Asp371Val)
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu) rs1745219682
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe) rs2109893939
NM_006859.4(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp) rs1191295540
NM_006859.4(LIAS):c.158T>A (p.Leu53His) rs2109868054
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn) rs1744463777
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn) rs141723499
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)
NM_006859.4(LIAS):c.218+4A>G rs1744469769
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg) rs1744535027
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala) rs1560666276
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp) rs796052702
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile) rs1744543385
NM_006859.4(LIAS):c.301A>G (p.Asn101Asp) rs886043545
NM_006859.4(LIAS):c.312A>G (p.Thr104=) rs749254524
NM_006859.4(LIAS):c.313G>A (p.Val105Ile) rs775744955
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu) rs773238728
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)
NM_006859.4(LIAS):c.359G>A (p.Gly120Asp) rs1183607358
NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del)
NM_006859.4(LIAS):c.391A>G (p.Met131Val) rs1744633174
NM_006859.4(LIAS):c.393+6G>T rs2109873076
NM_006859.4(LIAS):c.393+7C>G rs372423537
NM_006859.4(LIAS):c.393G>A (p.Met131Ile) rs2109873042
NM_006859.4(LIAS):c.394-6T>C rs1744704251
NM_006859.4(LIAS):c.399G>A (p.Met133Ile) rs774320280
NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr)
NM_006859.4(LIAS):c.419G>A (p.Gly140Asp) rs1578236671
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr) rs1196830198
NM_006859.4(LIAS):c.465_466delinsTT (p.Asp156Tyr) rs2109875370
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys) rs1744708135
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser) rs1744708957
NM_006859.4(LIAS):c.499A>G (p.Ile167Val)
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser) rs751814381
NM_006859.4(LIAS):c.511G>A (p.Gly171Ser)
NM_006859.4(LIAS):c.512G>A (p.Gly171Asp) rs2109875475
NM_006859.4(LIAS):c.515T>C (p.Leu172Pro) rs2109875481
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly) rs906832972
NM_006859.4(LIAS):c.550+4A>G rs1560668262
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu) rs1744715001
NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val)
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr) rs1744443342
NM_006859.4(LIAS):c.58T>C (p.Tyr20His)
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr) rs1553934367
NM_006859.4(LIAS):c.595T>C (p.Tyr199His) rs1744716622
NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys)
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)
NM_006859.4(LIAS):c.619A>G (p.Ile207Val) rs765961914
NM_006859.4(LIAS):c.632G>T (p.Cys211Phe)
NM_006859.4(LIAS):c.638C>T (p.Thr213Ile) rs1268712461
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn) rs1560669433
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu) rs1021766315
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)
NM_006859.4(LIAS):c.673A>G (p.Lys225Glu)
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro) rs1553934545
NM_006859.4(LIAS):c.694G>C (p.Asp232His)
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe) rs1475625272
NM_006859.4(LIAS):c.703G>C (p.Ala235Pro) rs758964059
NM_006859.4(LIAS):c.708T>G (p.His236Gln) rs1057524792
NM_006859.4(LIAS):c.709A>G (p.Asn237Asp) rs778212967
NM_006859.4(LIAS):c.70C>G (p.Pro24Ala) rs768692068
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu) rs746107734
NM_006859.4(LIAS):c.73G>C (p.Val25Leu) rs1744445711
NM_006859.4(LIAS):c.748G>A (p.Asp250Asn)
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006859.4(LIAS):c.770A>G (p.Gln257Arg)
NM_006859.4(LIAS):c.790C>T (p.His264Tyr)
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg) rs1560671038
NM_006859.4(LIAS):c.802G>A (p.Val268Ile) rs371831096
NM_006859.4(LIAS):c.807G>T (p.Gln269His) rs140846573
NM_006859.4(LIAS):c.817A>G (p.Ile273Val) rs1744927078
NM_006859.4(LIAS):c.827C>T (p.Thr276Ile)
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu) rs528498907
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr) rs1744928054
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe) rs1744929854
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu) rs1744930458
NM_006859.4(LIAS):c.883+6G>T rs934916861
NM_006859.4(LIAS):c.884-3C>A rs1207306697
NM_006859.4(LIAS):c.889C>T (p.Arg297Cys) rs1744968434
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp) rs1744968826
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser) rs1744970129
NM_006859.4(LIAS):c.925T>C (p.Tyr309His)
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr) rs2109884619
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys) rs1397998638
NM_006859.4(LIAS):c.947A>G (p.His316Arg) rs1578243031
NM_006859.4(LIAS):c.954+3A>G rs2109884668
NM_006859.4(LIAS):c.955-3T>G

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