ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NM_001281737.1(ETFDH):c.-174A>G rs886059193
NM_001281737.1(ETFDH):c.-315G>A rs886059192
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.1004G>C (p.Ser335Thr)
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837
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.1117T>C (p.Ser373Pro)
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698
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.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.1653G>A (p.Ser551=)
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.1773_1774del (p.Thr591_Cys592insTer) rs767795266
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) rs1580425904
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp)
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) rs1580396806
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
NM_004453.4(ETFDH):c.444A>C (p.Gly148=)
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.545G>A (p.Trp182Ter) rs767249944
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys) rs1580406086
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile) rs999532162
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) rs1032041993
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg) rs1580411844
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850
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.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.865G>A (p.Gly289Arg)
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) rs1218671512
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) rs1464356117
NM_004453.4(ETFDH):c.972+13C>T

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