ClinVar Miner

List of variants reported as uncertain significance for acyl-CoA dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP
NC_000012.12:g.120740021G>C
NM_000016.5(ACADM):c.*133T>C rs193140641
NM_000016.5(ACADM):c.*284C>T rs886046525
NM_000016.5(ACADM):c.*317C>T rs886046526
NM_000016.5(ACADM):c.*44T>C rs374993494
NM_000016.5(ACADM):c.*63dup rs1400150313
NM_000016.5(ACADM):c.*825del rs199923099
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-29T>C rs763024539
NM_000016.5(ACADM):c.-304A>G rs886046521
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.5(ACADM):c.-403C>T rs886046518
NM_000016.5(ACADM):c.-50A>T rs753411141
NM_000016.5(ACADM):c.-92A>G rs567983446
NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) rs150710061
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.57T>C (p.His19=) rs762984318
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.6(ACADM):c.*177G>C
NM_000016.6(ACADM):c.*427T>A
NM_000016.6(ACADM):c.*826T>C
NM_000016.6(ACADM):c.-78G>C
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu)
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
NM_000017.4(ACADS):c.*10G>A
NM_000017.4(ACADS):c.*162C>T
NM_000017.4(ACADS):c.*174G>C rs886049032
NM_000017.4(ACADS):c.*178C>T
NM_000017.4(ACADS):c.*235C>T
NM_000017.4(ACADS):c.*266G>T rs537512881
NM_000017.4(ACADS):c.*27C>T rs188190117
NM_000017.4(ACADS):c.*305C>A
NM_000017.4(ACADS):c.*37C>T
NM_000017.4(ACADS):c.*4C>T rs774815274
NM_000017.4(ACADS):c.*86C>T
NM_000017.4(ACADS):c.*91G>T rs886049031
NM_000017.4(ACADS):c.-56C>G rs567626964
NM_000017.4(ACADS):c.-56C>T rs567626964
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln)
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu)
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.1209C>T (p.Ala403=)
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
NM_000017.4(ACADS):c.336C>T (p.Thr112=) rs768784437
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002
NM_000017.4(ACADS):c.473-9T>G
NM_000017.4(ACADS):c.497C>T (p.Ala166Val)
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser)
NM_000017.4(ACADS):c.516C>T (p.Ala172=)
NM_000017.4(ACADS):c.552C>T (p.Ala184=) rs886049030
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu)
NM_000017.4(ACADS):c.602C>T (p.Thr201Met)
NM_000017.4(ACADS):c.624+11C>T rs763811046
NM_000017.4(ACADS):c.624+8C>T rs371550264
NM_000017.4(ACADS):c.663G>T (p.Gly221=)
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158
NM_000017.4(ACADS):c.906G>A (p.Ala302=)
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000126.4(ETFA):c.*46C>T
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.*99G>A rs140121559
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-56C>A rs548701046
NM_000126.4(ETFA):c.-59C>T rs80155214
NM_000126.4(ETFA):c.-71T>G
NM_000126.4(ETFA):c.-7G>A rs779643894
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401
NM_000126.4(ETFA):c.268+3G>A
NM_000126.4(ETFA):c.351+12G>A
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145
NM_000126.4(ETFA):c.882+10C>T
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.1049G>A (p.Arg350Gln)
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.12G>A (p.Pro4=) rs373776053
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.1732C>T (p.Arg578Trp)
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp)
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
NM_004453.4(ETFDH):c.444A>C (p.Gly148=)
NM_004453.4(ETFDH):c.488-12A>C
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.731T>C (p.Phe244Ser)
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850
NM_004453.4(ETFDH):c.832-10T>G rs200911913
NM_004453.4(ETFDH):c.843T>A (p.Ile281=)
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074
NM_004453.4(ETFDH):c.972+13C>T

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