ClinVar Miner

List of variants studied for Multiple acyl-CoA dehydrogenase deficiency by Baylor Genetics

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ClinVar version:
Total variants: 200
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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.1514T>C (p.Ile505Thr) rs764164607 0.00005
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.1657T>C (p.Tyr553His) rs182913453 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.406-1G>A rs750189181 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) rs119458971 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 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.494T>C (p.Val165Ala) rs749455172 0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) rs199763682 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 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.-40G>A rs1057521597 0.00001
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) rs1166705959 0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs) rs1209473816 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_001985.3(ETFB):c.58-87A>C rs1986023015 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.1331T>C (p.Val444Ala) rs760234838 0.00001
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) rs1174882036 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.176-2A>T rs1485038306 0.00001
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter) rs796051960 0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) rs765742496 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.728T>C (p.Ile243Thr) rs1397900640 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.858G>A (p.Trp286Ter) rs1235904433 0.00001
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) rs1384386872
NM_000126.4(ETFA):c.177del (p.Lys59fs)
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.226del (p.Val76fs)
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)
NM_000126.4(ETFA):c.266del (p.Pro89fs)
NM_000126.4(ETFA):c.268+1G>C
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
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.365G>A (p.Arg122Lys)
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)
NM_000126.4(ETFA):c.39+1G>A
NM_000126.4(ETFA):c.451+1G>A
NM_000126.4(ETFA):c.451+1G>T
NM_000126.4(ETFA):c.452-2A>G rs2141531787
NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.516del (p.Phe173fs)
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)
NM_000126.4(ETFA):c.664+2dup
NM_000126.4(ETFA):c.665-1G>A
NM_000126.4(ETFA):c.689dup (p.Asn230fs)
NM_000126.4(ETFA):c.693dup (p.Lys232Ter) rs754050501
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000126.4(ETFA):c.963+1del rs746488455
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
NM_001985.3(ETFB):c.208del (p.Gln70fs)
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) rs187424345
NM_001985.3(ETFB):c.32dup (p.Arg12fs)
NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs)
NM_001985.3(ETFB):c.375+1G>C
NM_001985.3(ETFB):c.376-2A>C
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.58-27C>T
NM_001985.3(ETFB):c.598-1del rs750961823
NM_001985.3(ETFB):c.59_63dup
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_001985.3(ETFB):c.671_672del (p.Val224fs)
NM_001985.3(ETFB):c.94del (p.Asp32fs)
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)
NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter)
NM_004453.4(ETFDH):c.1117-1G>A rs1774518252
NM_004453.4(ETFDH):c.1117-2A>G
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.1166del (p.Pro389fs)
NM_004453.4(ETFDH):c.119del (p.Pro40fs)
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) rs1200031596
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)
NM_004453.4(ETFDH):c.1260dup (p.Glu421Ter)
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)
NM_004453.4(ETFDH):c.1368_1371del (p.Ser457fs)
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) rs745714733
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)
NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) rs1774616485
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)
NM_004453.4(ETFDH):c.1471dup (p.Ser491fs)
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.1623del (p.Asp541fs) rs2126316669
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
NM_004453.4(ETFDH):c.1691-3C>G
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)
NM_004453.4(ETFDH):c.175+2T>C
NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter)
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.260del (p.Leu87fs)
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.299T>A (p.Val100Glu)
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.336_345del (p.His112fs)
NM_004453.4(ETFDH):c.34+1G>A
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.36del (p.Tyr13fs) rs2150304327
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.406-2A>G rs2150306282
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.485_487+14delinsT rs796051963
NM_004453.4(ETFDH):c.488-1G>T rs2150306551
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)
NM_004453.4(ETFDH):c.521T>C (p.Val174Ala)
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.577del (p.Glu193fs)
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.606+1G>T
NM_004453.4(ETFDH):c.606+4dup
NM_004453.4(ETFDH):c.607-1G>A
NM_004453.4(ETFDH):c.607-1G>T rs760251231
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) rs1482632936
NM_004453.4(ETFDH):c.685-1G>A
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)
NM_004453.4(ETFDH):c.723del (p.Thr242fs)
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004453.4(ETFDH):c.831+1G>A
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) rs755907131
NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter)
NM_004453.4(ETFDH):c.914dup (p.Gly306fs)
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)
NM_004453.4(ETFDH):c.972+1del
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)

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