ClinVar Miner

List of variants studied for acyl-CoA dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000016.6(ACADM):c.*878T>C rs1146587 0.65645
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000016.6(ACADM):c.*672T>C rs8763 0.14503
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000016.6(ACADM):c.*773G>A rs61612438 0.05111
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_000126.4(ETFA):c.-71T>C rs116149551 0.00516
NM_000017.4(ACADS):c.*200C>T rs137990231 0.00378
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_000016.6(ACADM):c.*826T>C rs200617844 0.00301
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000126.4(ETFA):c.*99G>A rs140121559 0.00250
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000126.4(ETFA):c.*46C>T rs183981964 0.00123
NM_000016.6(ACADM):c.*133T>C rs193140641 0.00117
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_004453.4(ETFDH):c.-97G>A rs183609368 0.00099
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_000017.4(ACADS):c.*27C>T rs188190117 0.00043
NM_000017.4(ACADS):c.-56C>G rs567626964 0.00041
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_000017.4(ACADS):c.*266G>T rs537512881 0.00029
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401 0.00027
NM_000016.5(ACADM):c.-403C>T rs886046518 0.00024
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000016.6(ACADM):c.-29T>C rs763024539 0.00018
NM_000016.6(ACADM):c.*44T>C rs374993494 0.00016
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_004453.4(ETFDH):c.*53del rs753793193 0.00013
NM_004453.3(ETFDH):c.-315G>A rs886059192 0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000126.4(ETFA):c.-59C>T rs80155214 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000126.4(ETFA):c.-56C>A rs548701046 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly) rs768440594 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000126.4(ETFA):c.-7G>A rs779643894 0.00005
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000017.4(ACADS):c.*10G>A rs761682729 0.00004
NM_000017.4(ACADS):c.*37C>T rs377080695 0.00004
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_000016.5(ACADM):c.-92A>G rs567983446 0.00003
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser) rs765604622 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) rs202121622 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_000016.5(ACADM):c.-304A>G rs886046521 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000017.4(ACADS):c.497C>T (p.Ala166Val) rs1022406482 0.00002
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) rs763912783 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074 0.00002
NM_000016.6(ACADM):c.*317C>T rs886046526 0.00001
NM_000016.6(ACADM):c.-50A>T rs753411141 0.00001
NM_000017.4(ACADS):c.*178C>T rs1309551400 0.00001
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln) rs953436518 0.00001
NM_000017.4(ACADS):c.1209C>T (p.Ala403=) rs377069922 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.336C>T (p.Thr112=) rs768784437 0.00001
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.602C>T (p.Thr201Met) rs151059234 0.00001
NM_000017.4(ACADS):c.906G>A (p.Ala302=) rs763162492 0.00001
NM_000126.4(ETFA):c.268+3G>A rs1160396237 0.00001
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488 0.00001
NM_000126.4(ETFA):c.78T>C (p.Ala26=) rs773298687 0.00001
NM_004453.4(ETFDH):c.-77C>G rs1296122115 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) rs1448673327 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.843T>A (p.Ile281=) rs765239908 0.00001
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-257G>A rs17848068
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.6(ACADM):c.*177G>C rs1311764448
NM_000016.6(ACADM):c.*284C>T rs886046525
NM_000016.6(ACADM):c.*427T>A rs551943304
NM_000016.6(ACADM):c.*63dup rs1400150313
NM_000016.6(ACADM):c.*825del rs199923099
NM_000016.6(ACADM):c.-78G>C rs908019570
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu) rs1648844304
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000017.2(ACADS):c.*573G>C rs17848081
NM_000017.4(ACADS):c.*162C>T rs1273364186
NM_000017.4(ACADS):c.*174G>C rs886049032
NM_000017.4(ACADS):c.*235C>T rs1883596141
NM_000017.4(ACADS):c.*305C>A rs550652942
NM_000017.4(ACADS):c.*86C>T rs374762327
NM_000017.4(ACADS):c.*91G>T rs886049031
NM_000017.4(ACADS):c.-56C>T rs567626964
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu) rs35233375
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812
NM_000017.4(ACADS):c.552C>T (p.Ala184=) rs886049030
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-71T>G rs116149551
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_004453.3(ETFDH):c.-174A>G rs886059193
NM_004453.4(ETFDH):c.*67T>G rs1774708906
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 rs917132143
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp) rs1773880547
NM_004453.4(ETFDH):c.444A>C (p.Gly148=) rs1773954457
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780

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