ClinVar Miner

List of variants reported as pathogenic for Multiple acyl-CoA dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) rs199763682 0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_000126.4(ETFA):c.625del (p.Arg209fs) rs1209473816 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457 0.00001
NM_004453.4(ETFDH):c.1285+1G>A rs767046886 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) rs1174882036 0.00001
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp) rs187248590 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.1690+1G>T rs917285990 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) rs199899494 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter) rs1235904433 0.00001
NC_000004.11:g.(?_159593534)_(159629689_?)del
NC_000004.11:g.(?_159593609)_(159603596_?)del
NC_000004.11:g.(?_159593609)_(159611597_?)del
NC_000004.11:g.(?_159605724)_(159611597_?)del
NC_000004.11:g.(?_159606119)_(159616730_?)del
NC_000004.11:g.(?_159611480)_(159620302_?)del
NC_000004.11:g.(?_159616098)_(159618829_?)del
NC_000015.10:g.(?_76311340)_(76311398_?)del
NC_000015.9:g.(?_76508890)_(76603739_?)del
NC_000015.9:g.(?_76566733)_(76566855_?)del
NC_000015.9:g.(?_76566733)_(76603729_?)del
NC_000015.9:g.(?_76580177)_(76585051_?)del
NC_000019.9:g.(?_51727962)_(51890697_?)del
NC_000019.9:g.(?_51848465)_(51850332_?)del
NC_000019.9:g.(?_51850134)_(51869580_?)del
NC_000019.9:g.(?_51869504)_(51869580_?)del
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) rs1384386872
NM_000126.4(ETFA):c.177del (p.Lys59fs)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.285del (p.Ile96fs) rs2039775781
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.321_322del (p.Ile108fs) rs866218814
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
NM_000126.4(ETFA):c.427dup (p.Thr143fs) rs2039717357
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter) rs1047426224
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
NM_000126.4(ETFA):c.478del (p.Asp160fs) rs2039705645
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
NM_000126.4(ETFA):c.560del (p.Lys187fs)
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
NM_000126.4(ETFA):c.624del (p.Arg209fs) rs1596218695
NM_000126.4(ETFA):c.693dup (p.Lys232Ter) rs754050501
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) rs757409121
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) rs187424345
NM_001985.3(ETFB):c.362del (p.Leu121fs)
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer) rs2123580195
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1062del (p.Gly355fs) rs2150312280
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) rs2126309189
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1169del (p.Gly390fs) rs1774519872
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) rs1200031596
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
NM_004453.4(ETFDH):c.1285+2T>G rs2126309523
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter) rs2126314844
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) rs1580422708
NM_004453.4(ETFDH):c.1375del (p.His459fs) rs1774610957
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter) rs989125087
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) rs745714733
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter) rs2126315337
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) rs1774616485
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs) rs2126315444
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs) rs2126316172
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr) rs751394068
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs) rs1774633192
NM_004453.4(ETFDH):c.1623del (p.Asp541fs) rs2126316669
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) rs2150304416
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs) rs2126316783
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser) rs2126316885
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter) rs1774695889
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
NM_004453.4(ETFDH):c.1745del (p.Asn582fs) rs1774698674
NM_004453.4(ETFDH):c.175+1del rs2150304426
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) rs781498366
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
NM_004453.4(ETFDH):c.1785del (p.Asp596fs) rs2126321079
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) rs1580425904
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg) rs2126321296
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
NM_004453.4(ETFDH):c.207del (p.Asp70fs) rs1773877563
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter) rs2150305196
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs) rs1773880008
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
NM_004453.4(ETFDH):c.360dup (p.Pro121fs)
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg) rs121964956
NM_004453.4(ETFDH):c.383del (p.Phe128fs)
NM_004453.4(ETFDH):c.386del (p.Pro129fs) rs2150305297
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs)
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs) rs1231802914
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs) rs1773954366
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter) rs549150456
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.71dup (p.Asn24fs) rs2150304342
NM_004453.4(ETFDH):c.838del (p.Val280fs)
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) rs755907131
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) rs1774344831
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
NM_004453.4(ETFDH):c.972+1del
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter) rs1169197181
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) rs2150312216
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter) rs2150312228

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.