ClinVar Miner

List of variants in gene ETFDH studied for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (6):
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Total variants: 138
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HGVS dbSNP
ETFDH, 1-BP DEL, 36A
NC_000004.11:g.(?_159601599)_(159620302_?)dup
NC_000004.11:g.(?_159601609)_(159620292_?)dup
NM_001281737.1(ETFDH):c.-174A>G rs886059193
NM_001281737.1(ETFDH):c.-239G>A rs113981461
NM_001281737.1(ETFDH):c.-315G>A rs886059192
NM_004453.2(ETFDH):c.1367C>T rs398124152
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_004453.4(ETFDH):c.*135A>C rs17843966
NM_004453.4(ETFDH):c.*53del rs753793193
NM_004453.4(ETFDH):c.*67T>G
NM_004453.4(ETFDH):c.-61C>T
NM_004453.4(ETFDH):c.-77C>G
NM_004453.4(ETFDH):c.-97G>A rs183609368
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) rs150020458
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1117-11T>C
NM_004453.4(ETFDH):c.1117-1G>A
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151
NM_004453.4(ETFDH):c.1285+1G>A rs767046886
NM_004453.4(ETFDH):c.1286-8A>T
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
NM_004453.4(ETFDH):c.1468+15A>C rs146561214
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999
NM_004453.4(ETFDH):c.1605_1606AC[1] (p.His536fs)
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
NM_004453.4(ETFDH):c.1690+15C>T rs11931339
NM_004453.4(ETFDH):c.1690+1G>T rs917285990
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.1764T>C (p.His588=)
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter)
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036
NM_004453.4(ETFDH):c.207del (p.Asp70fs)
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp)
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly)
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
NM_004453.4(ETFDH):c.296_297GT[5] (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)
NM_004453.4(ETFDH):c.405+3A>T rs796051965
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) rs138149265
NM_004453.4(ETFDH):c.444A>C (p.Gly148=)
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.474G>A (p.Val158=)
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
NM_004453.4(ETFDH):c.488-12A>C
NM_004453.4(ETFDH):c.488-9T>C rs1554031705
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964
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.545G>A (p.Trp182Ter) rs767249944
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158
NM_004453.4(ETFDH):c.627T>C (p.Gly209=) rs148708761
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.642T>C (p.Ile214=) rs201049444
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys)
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224
NM_004453.4(ETFDH):c.684+13A>C rs149407913
NM_004453.4(ETFDH):c.684+2T>G
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile)
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg)
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg)
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu)
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) rs1265381182
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
NM_004453.4(ETFDH):c.831+4T>C rs752971257
NM_004453.4(ETFDH):c.832-10T>G rs200911913
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) rs761854400
NM_004453.4(ETFDH):c.843T>A (p.Ile281=)
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val)
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) rs1464356117
NM_004453.4(ETFDH):c.972+13C>T
NM_004453.4(ETFDH):c.972+7T>A
NM_004453.4(ETFDH):c.973-1G>A

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