ClinVar Miner

List of variants in gene ACADVL reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP
NM_000018.2(ACADVL):c.1182+1G>A rs113690956
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln) rs753624994
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs) rs1567565643
NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe) rs1567565656
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val) rs1303150138
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) rs1329022268
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala)
NM_000018.4(ACADVL):c.104del (p.Pro35fs) rs1443151475
NM_000018.4(ACADVL):c.1062_1064CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala)
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp) rs536992268
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307
NM_000018.4(ACADVL):c.1182+2dup
NM_000018.4(ACADVL):c.1183-7A>G
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn) rs1555528737
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu) rs1451455641
NM_000018.4(ACADVL):c.1269+10C>T rs1555528738
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu) rs748450834
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)
NM_000018.4(ACADVL):c.1333-7G>T rs1228196483
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu) rs1555528779
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.139-1G>T
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile) rs1555528796
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1452C>T (p.Leu484=) rs1555528820
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)
NM_000018.4(ACADVL):c.1532+10G>A rs775913504
NM_000018.4(ACADVL):c.1532+7T>A rs534469222
NM_000018.4(ACADVL):c.1533-4T>A rs369986567
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1605+2T>C
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln) rs201350598
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln) rs1555528957
NM_000018.4(ACADVL):c.1678+23C>T rs147546456
NM_000018.4(ACADVL):c.1678+3_1678+6del
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1751+2T>C
NM_000018.4(ACADVL):c.1752-2del rs1555529044
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro) rs1567569494
NM_000018.4(ACADVL):c.1766_1769TGAG[1] (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742
NM_000018.4(ACADVL):c.1828-4C>G rs184559206
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly) rs374898424
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala)
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp) rs1208010882
NM_000018.4(ACADVL):c.192dup (p.Pro65fs) rs771055189
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.4(ACADVL):c.204+4G>C
NM_000018.4(ACADVL):c.205-2A>G
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.277+6G>T rs776422793
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)
NM_000018.4(ACADVL):c.296_297CA[1] (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142
NM_000018.4(ACADVL):c.342+1G>C rs780020193
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472
NM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.393C>G (p.Thr131=) rs754931255
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro) rs1555527925
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.542A>G (p.His181Arg) rs1425862331
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.623-8C>T rs144996066
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) rs1432183079
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu)
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly) rs1555528320
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573
NM_000018.4(ACADVL):c.752+5C>T
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.753-2A>C rs398123092
NM_000018.4(ACADVL):c.756T>C (p.Asn252=) rs143233413
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg) rs1555528345
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)
NM_000018.4(ACADVL):c.809del (p.Pro270fs) rs1567564499
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del) rs1555528367
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.830_832AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.864C>T (p.Phe288=) rs753748672
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu) rs1247979958
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg)
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu) rs369149696
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys)
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr) rs727503792
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.