ClinVar Miner

List of variants reported as uncertain significance for Multiple acyl-CoA dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*99G>A rs140121559 0.00250
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000126.4(ETFA):c.*46C>T rs183981964 0.00123
NM_004453.4(ETFDH):c.-97G>A rs183609368 0.00099
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401 0.00027
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214 0.00027
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507 0.00026
NM_001985.3(ETFB):c.541G>A (p.Val181Met) rs148443220 0.00022
NM_001985.3(ETFB):c.227G>A (p.Arg76His) rs148567433 0.00021
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00016
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_004453.4(ETFDH):c.*53del rs753793193 0.00013
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) rs372591001 0.00012
NM_000126.4(ETFA):c.-9G>T rs754953251 0.00011
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) rs148261223 0.00011
NM_004453.3(ETFDH):c.-315G>A rs886059192 0.00011
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) rs200611086 0.00011
NM_000126.4(ETFA):c.882+5T>C rs377259058 0.00010
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu) rs772351035 0.00010
NM_000126.4(ETFA):c.-59C>T rs80155214 0.00009
NM_000126.4(ETFA):c.11C>T (p.Ala4Val) rs761552468 0.00009
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_000126.4(ETFA):c.-56C>A rs548701046 0.00008
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) rs369713466 0.00008
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) rs145173884 0.00007
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) rs146982178 0.00007
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr) rs772322071 0.00006
NM_001985.3(ETFB):c.184A>G (p.Ile62Val) rs199705168 0.00006
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser) rs375326450 0.00006
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_000126.4(ETFA):c.-7G>A rs779643894 0.00005
NM_004453.4(ETFDH):c.831+4T>C rs752971257 0.00005
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) rs761854400 0.00005
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) rs374127169 0.00004
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly) rs986861899 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr) rs151108898 0.00004
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala) rs143568332 0.00004
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser) rs750230877 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) rs771456968 0.00004
NM_004453.4(ETFDH):c.1690+4A>G rs752590057 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) rs758004001 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) rs202121622 0.00003
NM_000126.4(ETFA):c.883-3C>T rs772701864 0.00003
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys) rs750117869 0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) rs548046212 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041 0.00003
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) rs200877363 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu) rs752947878 0.00003
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr) rs1340326448 0.00003
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys) rs780880209 0.00002
NM_000126.4(ETFA):c.919A>G (p.Ile307Val) rs373896010 0.00002
NM_000126.4(ETFA):c.964-1G>C rs757885420 0.00002
NM_000126.4(ETFA):c.967G>A (p.Val323Ile) rs1225887341 0.00002
NM_001985.3(ETFB):c.134C>T (p.Ala45Val) rs770414295 0.00002
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp) rs748730384 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr) rs1255214567 0.00002
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) rs763912783 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn) rs758859840 0.00002
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala) rs398124154 0.00002
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074 0.00002
NM_000126.4(ETFA):c.-40G>A rs1057521597 0.00001
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu) rs201424632 0.00001
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) rs1166705959 0.00001
NM_000126.4(ETFA):c.268+3G>A rs1160396237 0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu) rs1323414196 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) rs1398343360 0.00001
NM_000126.4(ETFA):c.506G>A (p.Arg169His) rs375660532 0.00001
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) rs780998008 0.00001
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488 0.00001
NM_000126.4(ETFA):c.759T>C (p.Asp253=) rs142970498 0.00001
NM_000126.4(ETFA):c.78T>C (p.Ala26=) rs773298687 0.00001
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) rs772068605 0.00001
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) rs778807824 0.00001
NM_000126.4(ETFA):c.932C>T (p.Ala311Val) rs1263820606 0.00001
NM_001985.3(ETFB):c.113T>C (p.Met38Thr) rs775541180 0.00001
NM_001985.3(ETFB):c.293G>A (p.Arg98His) rs761063406 0.00001
NM_001985.3(ETFB):c.438+5G>T rs1450691951 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_001985.3(ETFB):c.572G>A (p.Arg191His) rs769951998 0.00001
NM_001985.3(ETFB):c.58-87A>C rs1986023015 0.00001
NM_001985.3(ETFB):c.597+6C>T rs539989327 0.00001
NM_001985.3(ETFB):c.645dup (p.Val216fs) rs1428088327 0.00001
NM_001985.3(ETFB):c.92C>T (p.Thr31Met) rs371751519 0.00001
NM_004453.4(ETFDH):c.-77C>G rs1296122115 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg) rs1452265763 0.00001
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr) rs749456492 0.00001
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) rs1774520171 0.00001
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser) rs574791445 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala) rs760234838 0.00001
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) rs763536356 0.00001
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His) rs750799644 0.00001
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro) rs1404615636 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro) rs751839607 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser) rs937646249 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) rs747312700 0.00001
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) rs1279728239 0.00001
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln) rs768961719 0.00001
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu) rs374585539 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu) rs1774702955 0.00001
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp) rs1303489545 0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) rs765742496 0.00001
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys) rs1242099513 0.00001
NM_004453.4(ETFDH):c.257G>A (p.Arg86His) rs777655131 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004453.4(ETFDH):c.472G>A (p.Val158Met) rs774614480 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile) rs999532162 0.00001
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr) rs1397900640 0.00001
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) rs1448673327 0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) rs371260517 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) rs754082348 0.00001
NM_004453.4(ETFDH):c.843T>A (p.Ile281=) rs765239908 0.00001
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser) rs748958949 0.00001
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp) rs762031780 0.00001
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln) rs201579588 0.00001
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu) rs1394204740 0.00001
NC_000004.11:g.(?_159593609)_(159616815_?)dup
NC_000004.11:g.(?_159593609)_(159629679_?)dup
NC_000015.9:g.(?_76508900)_(76518290_?)del
NC_000015.9:g.(?_76508900)_(76603729_?)dup
NC_000015.9:g.(?_76518170)_(76518290_?)del
NC_000015.9:g.(?_76523654)_(76523759_?)del
NC_000015.9:g.(?_76603671)_(76603729_?)dup
NC_000019.9:g.(?_51848465)_(51856564_?)dup
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-71T>G rs116149551
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
NM_000126.4(ETFA):c.163G>A (p.Val55Ile) rs1035217923
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
NM_000126.4(ETFA):c.187-3T>C
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) rs2039778846
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro) rs1400343293
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) rs2039778041
NM_000126.4(ETFA):c.269-8A>G rs1440046169
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
NM_000126.4(ETFA):c.300G>T (p.Gln100His) rs948361766
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) rs1414148078
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser) rs755055339
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro) rs1286837897
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile) rs199597352
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala) rs1396125343
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) rs2141531541
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln) rs2141530756
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly) rs199763682
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) rs1596224387
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg) rs1390694827
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) rs2141528171
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys) rs1353938548
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
NM_000126.4(ETFA):c.77C>T (p.Ala26Val) rs1389901296
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys) rs2141543849
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) rs1184566559
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000126.4(ETFA):c.882+3A>G
NM_000126.4(ETFA):c.882+6T>G rs746311782
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp) rs2039810890
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro) rs2141564581
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
NM_000126.4(ETFA):c.946G>C (p.Val316Leu) rs1567195832
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) rs1567195832
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys) rs2038898400
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) rs746082442
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
NM_001985.3(ETFB):c.22G>A (p.Val8Ile) rs531136177
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr) rs1352787179
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
NM_001985.3(ETFB):c.259A>G (p.Ile87Val) rs2123587270
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
NM_001985.3(ETFB):c.375+6T>G
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
NM_001985.3(ETFB):c.438+4A>G
NM_001985.3(ETFB):c.438+5G>A
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
NM_001985.3(ETFB):c.499G>C (p.Asp167His) rs140614695
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly) rs755539437
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
NM_001985.3(ETFB):c.58-196_58-194del rs768440463
NM_001985.3(ETFB):c.58-27C>T
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) rs747411704
NM_001985.3(ETFB):c.598-3C>T
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) rs767519060
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln) rs369216610
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
NM_001985.3(ETFB):c.632C>A (p.Pro211His) rs760907327
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) rs2123567525
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) rs761714465
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp) rs370522844
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
NM_004453.3(ETFDH):c.-174A>G rs886059193
NM_004453.4(ETFDH):c.*67T>G rs1774708906
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn) rs2150312268
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala) rs2150312279
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser) rs1774393063
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1116+6T>C rs1561247878
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)
NM_004453.4(ETFDH):c.1117-11T>C rs917132143
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro) rs1774518301
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe) rs1774518388
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser) rs2126309213
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
NM_004453.4(ETFDH):c.1286-13T>C
NM_004453.4(ETFDH):c.1286-15T>A rs1248795834
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln) rs1431935282
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val) rs766776740
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu) rs766776740
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr) rs2126314946
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu) rs1774612717
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala) rs924962456
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=) rs1774613217
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met) rs2126315307
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr) rs1774615246
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys) rs1774615624
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro) rs1774616683
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His) rs1445646586
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn) rs2150304401
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys) rs2126316568
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu) rs2126316873
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser) rs867281765
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) rs760578708
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg) rs749989069
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup) rs1774700761
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr) rs1292587000
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu) rs765742496
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr)
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser) rs1208091864
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp) rs1773880547
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) rs1580396806
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
NM_004453.4(ETFDH):c.334C>A (p.His112Asn) rs1773883564
NM_004453.4(ETFDH):c.34+5G>A
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro) rs763106795
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly) rs2150305281
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe) rs1467428857
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly) rs1773885189
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys) rs1773885660
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser) rs985343342
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
NM_004453.4(ETFDH):c.444A>C (p.Gly148=) rs1773954457
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln) rs2150306318
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu) rs1773956133
NM_004453.4(ETFDH):c.488-9T>C rs1554031705
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser) rs1773969792
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro) rs1255103931
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln) rs2150306642
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)
NM_004453.4(ETFDH):c.617A>C (p.His206Pro)
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe) rs780991832
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met) rs201049444
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys) rs1580406086
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) rs1482632936
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) rs1032041993
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg) rs1580411844
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu) rs1580411897
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) rs1265381182
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
NM_004453.4(ETFDH):c.831+6C>T
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg) rs1774343332
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) rs1218671512
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
NM_004453.4(ETFDH):c.948A>G (p.Glu316=) rs1774347347
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile) rs763002171
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) rs1464356117
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu) rs1774348680
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)

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.