ClinVar Miner

List of variants reported as uncertain significance for acyl-CoA dehydrogenase deficiency by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NC_000012.12:g.(?_120725866)_(120727209_?)del
NM_000016.5(ACADM):c.1012C>G (p.Gln338Glu) rs796051896
NM_000016.5(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) rs150710061
NM_000016.5(ACADM):c.1125A>G (p.Ile375Met) rs201809827
NM_000016.5(ACADM):c.1194+3A>G rs369945009
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.131A>G (p.Gln44Arg) rs751647383
NM_000016.5(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.5(ACADM):c.393G>A (p.Met131Ile) rs368773005
NM_000016.5(ACADM):c.666C>A (p.Phe222Leu) rs139457557
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.86G>T (p.Arg29Leu)
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
NM_000017.4(ACADS):c.1011C>G (p.Asn337Lys) rs200346345
NM_000017.4(ACADS):c.1028A>G (p.Lys343Arg)
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) rs796051904
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val) rs770439736
NM_000017.4(ACADS):c.1084C>G (p.Gln362Glu) rs541587321
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1102G>A (p.Gly368Ser) rs1433674196
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.1198C>G (p.Leu400Val) rs369840561
NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr)
NM_000017.4(ACADS):c.203C>T (p.Ala68Val)
NM_000017.4(ACADS):c.204G>A (p.Ala68=) rs374124706
NM_000017.4(ACADS):c.215_217AGA[1] (p.Lys73del)
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004
NM_000017.4(ACADS):c.304A>G (p.Met102Val) rs766216232
NM_000017.4(ACADS):c.314T>A (p.Ile105Asn) rs1035363801
NM_000017.4(ACADS):c.360+1G>A
NM_000017.4(ACADS):c.364C>T (p.Leu122Phe) rs1555243946
NM_000017.4(ACADS):c.380T>C (p.Ile127Thr) rs1555243949
NM_000017.4(ACADS):c.40C>G (p.Arg14Gly) rs542140065
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) rs148297461
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe) rs368500899
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) rs1057523592
NM_000017.4(ACADS):c.47C>T (p.Ala16Val)
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr) rs765604622
NM_000017.4(ACADS):c.514dup (p.Ala172fs)
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880
NM_000017.4(ACADS):c.625-1G>A rs1452314438
NM_000017.4(ACADS):c.654_655delinsCT (p.Thr219Ser)
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg) rs1181743442
NM_000017.4(ACADS):c.67C>T (p.Arg23Trp) rs770222581
NM_000017.4(ACADS):c.795+6C>T
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198
NM_000017.4(ACADS):c.821G>A (p.Gly274Asp) rs772531600
NM_000017.4(ACADS):c.859C>T (p.Leu287Phe) rs1373305585
NM_000017.4(ACADS):c.868G>C (p.Ala290Pro) rs777181213
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) rs1414148078
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) rs780998008
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) rs1596224387
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) rs772068605
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) rs1184566559
NM_000126.4(ETFA):c.882+6T>G rs746311782
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) rs1567195832
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)
NM_001286044.1(ACADM):c.-100+670_-100+671delinsCA rs1553123069
NM_001286044.1(ACADM):c.-151_-149AGA[1] rs1553122972
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) rs746082442
NM_001985.3(ETFB):c.227G>A (p.Arg76His) rs148567433
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041
NM_001985.3(ETFB):c.632C>A (p.Pro211His)
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) rs761714465
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) rs145173884
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)
NM_004453.4(ETFDH):c.1690+1G>T rs917285990
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.284A>G (p.Glu95Gly) rs1580396806
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
NM_004453.4(ETFDH):c.488-9T>C rs1554031705
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.761A>G (p.Lys254Arg) rs1580411844
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.841A>G (p.Ile281Val) rs761854400
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) rs1218671512
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) rs1464356117

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