ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.-97G>A rs183609368 0.00099
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_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
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_004453.3(ETFDH):c.-315G>A rs886059192 0.00011
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) rs200611086 0.00011
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_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
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_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_004453.4(ETFDH):c.831+4T>C rs752971257 0.00005
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) rs761854400 0.00005
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_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_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_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
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)

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