ClinVar Miner

List of variants studied for Lipoic acid synthetase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 340
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_006859.4(LIAS):c.737+13A>T rs79572060 0.02580
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265 0.00187
NM_006859.4(LIAS):c.393+8C>A rs201574806 0.00149
NM_006859.4(LIAS):c.807G>A (p.Gln269=) rs140846573 0.00048
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903 0.00019
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.31A>T (p.Thr11Ser) rs147516123 0.00014
NM_006859.4(LIAS):c.393+10G>A rs372094616 0.00011
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949 0.00011
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser) rs146513468 0.00011
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137 0.00009
NM_006859.4(LIAS):c.20A>T (p.Asp7Val) rs368786581 0.00009
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792 0.00009
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) rs374709255 0.00008
NM_006859.4(LIAS):c.1116C>G (p.Leu372=) rs376183576 0.00007
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu) rs369125654 0.00006
NM_006859.4(LIAS):c.999A>G (p.Lys333=) rs372877643 0.00006
NM_006859.4(LIAS):c.386C>T (p.Thr129Met) rs142293392 0.00005
NM_006859.4(LIAS):c.393+7C>T rs372423537 0.00005
NM_006859.4(LIAS):c.609-19T>C rs1169661442 0.00005
NM_006859.4(LIAS):c.1066+20A>G rs748825373 0.00004
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn) rs199942447 0.00004
NM_006859.4(LIAS):c.114C>G (p.Leu38=) rs750439302 0.00004
NM_006859.4(LIAS):c.27C>A (p.Ala9=) rs553110956 0.00004
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) rs747124026 0.00004
NM_006859.4(LIAS):c.737+9G>A rs750744754 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.168G>A (p.Arg56=) rs768182597 0.00003
NM_006859.4(LIAS):c.375C>T (p.Thr125=) rs538035764 0.00003
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) rs74528014 0.00003
NM_006859.4(LIAS):c.737+1G>A rs546751789 0.00003
NM_006859.4(LIAS):c.738-20A>G rs777702565 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.234A>G (p.Pro78=) rs766730917 0.00002
NM_006859.4(LIAS):c.403G>C (p.Asp135His) rs772011702 0.00002
NM_006859.4(LIAS):c.46-16T>C rs752442762 0.00002
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu) rs1328126199 0.00002
NM_006859.4(LIAS):c.737+11G>A rs760672937 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.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe) rs771693497 0.00001
NM_006859.4(LIAS):c.1029T>C (p.Thr343=) rs777324779 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.10C>T (p.Arg4Cys) rs1299862454 0.00001
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) rs763606110 0.00001
NM_006859.4(LIAS):c.138A>G (p.Gln46=) rs1040093656 0.00001
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) rs1184621128 0.00001
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser) rs1250162017 0.00001
NM_006859.4(LIAS):c.186T>C (p.Tyr62=) rs1166998501 0.00001
NM_006859.4(LIAS):c.18G>A (p.Gly6=) rs774040503 0.00001
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn) rs761633225 0.00001
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) rs1172950083 0.00001
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) rs1467308371 0.00001
NM_006859.4(LIAS):c.24A>G (p.Ala8=) rs750426614 0.00001
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser) rs999105881 0.00001
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile) rs1230898917 0.00001
NM_006859.4(LIAS):c.29G>A (p.Arg10His) rs1370681479 0.00001
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln) rs773238728 0.00001
NM_006859.4(LIAS):c.330A>T (p.Arg110=) rs757501311 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.378C>T (p.Ala126=) rs1190479485 0.00001
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) rs1320749254 0.00001
NM_006859.4(LIAS):c.387G>A (p.Thr129=) rs746196972 0.00001
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu) rs1187910864 0.00001
NM_006859.4(LIAS):c.405C>T (p.Asp135=) rs1458548365 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.44G>A (p.Arg15Gln) rs184218786 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.529C>T (p.Leu177=) rs750168413 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.608+13G>A rs1003800399 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.69C>T (p.Ser23=) rs946086496 0.00001
NM_006859.4(LIAS):c.706C>T (p.His236Tyr) rs1426782379 0.00001
NM_006859.4(LIAS):c.737+10T>G rs773328488 0.00001
NM_006859.4(LIAS):c.737+8C>T rs984126692 0.00001
NM_006859.4(LIAS):c.738-9G>A rs1256747817 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.789A>G (p.Lys263=) rs1234796638 0.00001
NM_006859.4(LIAS):c.81G>A (p.Pro27=) rs760501971 0.00001
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699 0.00001
NM_006859.4(LIAS):c.867A>G (p.Val289=) rs745794858 0.00001
NM_006859.4(LIAS):c.872C>T (p.Ala291Val) rs769256159 0.00001
NM_006859.4(LIAS):c.883+17A>G rs768249393 0.00001
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr) rs774997711 0.00001
NM_006859.4(LIAS):c.884-18G>A rs754933240 0.00001
NM_006859.4(LIAS):c.884-4A>G rs1182861876 0.00001
NM_006859.4(LIAS):c.884-5T>A rs374449188 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.916T>C (p.Leu306=) rs779455306 0.00001
NM_006859.4(LIAS):c.930G>A (p.Met310Ile) rs796052700 0.00001
NM_006859.4(LIAS):c.954+1G>A rs965952835 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.(?_38765721)_(41750627_?)dup
NC_000004.11:g.(?_39435810)_(39478735_?)dup
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460510)_(39460802_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000004.11:g.(?_39460738)_(39478735_?)dup
NM_001363700.2(LIAS):c.299+1682_299+1690del rs776064587
NM_006859.4(LIAS):c.1023T>C (p.His341=)
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp) rs1745057681
NM_006859.4(LIAS):c.1041T>C (p.Pro347=)
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His) rs1745058560
NM_006859.4(LIAS):c.105A>G (p.Lys35=) rs2109867811
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro) rs1745058899
NM_006859.4(LIAS):c.1065A>T (p.Ala355=) rs765479168
NM_006859.4(LIAS):c.1066+12T>C
NM_006859.4(LIAS):c.1066+16G>A
NM_006859.4(LIAS):c.1066+18G>T
NM_006859.4(LIAS):c.1066+19C>T
NM_006859.4(LIAS):c.1067-11T>C rs1315541765
NM_006859.4(LIAS):c.1067-15C>G
NM_006859.4(LIAS):c.1068T>G (p.Gly356=)
NM_006859.4(LIAS):c.107dup (p.Glu37fs)
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)
NM_006859.4(LIAS):c.1098A>G (p.Lys366=)
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.1113C>T (p.Asp371=)
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe) rs2109893939
NM_006859.4(LIAS):c.1118A>G (p.Ter373=)
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu) rs1401099440
NM_006859.4(LIAS):c.120G>A (p.Gln40=)
NM_006859.4(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.4(LIAS):c.130del (p.Asp44fs)
NM_006859.4(LIAS):c.144T>C (p.Phe48=) rs745864982
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.15C>G (p.Cys5Trp) rs1473782911
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn) rs1744463777
NM_006859.4(LIAS):c.166A>C (p.Arg56=)
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn) rs141723499
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu) rs1744293519
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)
NM_006859.4(LIAS):c.1A>C (p.Met1Leu) rs776691180
NM_006859.4(LIAS):c.212del (p.Gly71fs) rs1417695501
NM_006859.4(LIAS):c.218+14T>A
NM_006859.4(LIAS):c.218+15G>A
NM_006859.4(LIAS):c.218+19T>C
NM_006859.4(LIAS):c.218+1G>A
NM_006859.4(LIAS):c.218+4A>G rs1744469769
NM_006859.4(LIAS):c.218+7_218+13dup
NM_006859.4(LIAS):c.219-6C>T
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)
NM_006859.4(LIAS):c.231T>C (p.Pro77=)
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.266dup (p.Asn89fs) rs1355425067
NM_006859.4(LIAS):c.26C>T (p.Ala9Val)
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.280A>T (p.Lys94Ter)
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)
NM_006859.4(LIAS):c.291G>A (p.Leu97=)
NM_006859.4(LIAS):c.292C>A (p.Arg98=)
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.312+17T>G rs1744546093
NM_006859.4(LIAS):c.312+8G>T
NM_006859.4(LIAS):c.312A>G (p.Thr104=) rs749254524
NM_006859.4(LIAS):c.313-12T>G rs2109872778
NM_006859.4(LIAS):c.313-14C>T
NM_006859.4(LIAS):c.313-19C>T
NM_006859.4(LIAS):c.313-6A>G
NM_006859.4(LIAS):c.313-7C>T
NM_006859.4(LIAS):c.313G>A (p.Val105Ile) rs775744955
NM_006859.4(LIAS):c.315A>G (p.Val105=)
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu) rs773238728
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)
NM_006859.4(LIAS):c.342T>C (p.Ile114=)
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.35T>A (p.Leu12Gln) rs1436660040
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.367_389dup (p.Leu132fs)
NM_006859.4(LIAS):c.391A>G (p.Met131Val) rs1744633174
NM_006859.4(LIAS):c.393+17C>T
NM_006859.4(LIAS):c.393+6G>T rs2109873076
NM_006859.4(LIAS):c.393+7C>A rs372423537
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.440dup (p.Thr148fs) rs1744706299
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro) rs184218786
NM_006859.4(LIAS):c.45+10G>A
NM_006859.4(LIAS):c.45+12G>A
NM_006859.4(LIAS):c.45+18C>T
NM_006859.4(LIAS):c.45+19G>T
NM_006859.4(LIAS):c.45+20G>T rs1424759183
NM_006859.4(LIAS):c.45+7G>A rs1263617011
NM_006859.4(LIAS):c.46-13A>T
NM_006859.4(LIAS):c.46-17A>G rs2109867537
NM_006859.4(LIAS):c.46-5T>C rs764526355
NM_006859.4(LIAS):c.462A>C (p.Pro154=) rs924459280
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.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_006859.4(LIAS):c.480del (p.Tyr161fs)
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser) rs1744708957
NM_006859.4(LIAS):c.499A>G (p.Ile167Val)
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)
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.520del (p.Tyr174fs) rs760569998
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly) rs906832972
NM_006859.4(LIAS):c.550+11C>T
NM_006859.4(LIAS):c.550+12A>G
NM_006859.4(LIAS):c.550+16T>C
NM_006859.4(LIAS):c.550+4A>G rs1560668262
NM_006859.4(LIAS):c.550+9G>A rs1744712599
NM_006859.4(LIAS):c.551-16A>T
NM_006859.4(LIAS):c.551-19T>C rs2109875645
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.587C>A (p.Thr196Asn) rs1744715983
NM_006859.4(LIAS):c.588C>T (p.Thr196=)
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.597T>C (p.Tyr199=) rs2109875753
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys) rs372288500
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)
NM_006859.4(LIAS):c.600A>G (p.Leu200=)
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)
NM_006859.4(LIAS):c.608+7A>C
NM_006859.4(LIAS):c.609-13C>T
NM_006859.4(LIAS):c.609-6C>T rs1744804569
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.643del (p.Asp215fs) rs1744806313
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter) rs997841253
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu) rs1021766315
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter) rs1744807781
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.705A>C (p.Ala235=) rs111583368
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.714A>G (p.Val238=)
NM_006859.4(LIAS):c.723C>A (p.Val241=) rs1029290249
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu) rs746107734
NM_006859.4(LIAS):c.737+20A>T
NM_006859.4(LIAS):c.737+6dup
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.7C>T (p.Leu3=) rs1553933562
NM_006859.4(LIAS):c.801G>A (p.Lys267=)
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.834A>C (p.Ile278=)
NM_006859.4(LIAS):c.838T>C (p.Leu280=)
NM_006859.4(LIAS):c.849C>A (p.Gly283=) rs146030265
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+10T>C
NM_006859.4(LIAS):c.883+15_883+56del rs1368518925
NM_006859.4(LIAS):c.883+6G>T rs934916861
NM_006859.4(LIAS):c.884-1G>A rs201155530
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.900T>C (p.Asp300=) rs958145023
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser) rs1744970129
NM_006859.4(LIAS):c.924A>G (p.Gln308=)
NM_006859.4(LIAS):c.925T>C (p.Tyr309His)
NM_006859.4(LIAS):c.93G>A (p.Leu31=)
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+11C>A
NM_006859.4(LIAS):c.954+18dup
NM_006859.4(LIAS):c.954+20C>G
NM_006859.4(LIAS):c.954+20C>T rs918706580
NM_006859.4(LIAS):c.954+3A>G rs2109884668
NM_006859.4(LIAS):c.954+9A>G
NM_006859.4(LIAS):c.955-11T>C
NM_006859.4(LIAS):c.955-13T>G rs755822707
NM_006859.4(LIAS):c.955-3T>G
NM_006859.4(LIAS):c.955-4C>G rs2109887808
NM_006859.4(LIAS):c.955-7A>T
NM_006859.4(LIAS):c.963A>G (p.Glu321=)
NM_006859.4(LIAS):c.975T>C (p.Pro325=)
NM_006859.4(LIAS):c.999dup (p.Val334fs) rs2109887859

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.