ClinVar Miner

List of variants in gene ACADVL reported as pathogenic

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Total variants: 75
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HGVS dbSNP
ACADVL, 105-BP DEL
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.3(ACADVL):c.[194C>T;739A>C]
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs) rs1567565643
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) rs1329022268
NM_000018.4(ACADVL):c.104del (p.Pro35fs) rs1443151475
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
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.1102_1103del (p.Gln368fs) rs1567566228
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
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.1368dup (p.Ile457fs)
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.4(ACADVL):c.1532+1G>A rs727503794
NM_000018.4(ACADVL):c.1605+2T>C
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs) rs1057518411
NM_000018.4(ACADVL):c.1766_1769TGAG[1] (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1804_1805CT[1] (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.192dup (p.Pro65fs) rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter) rs796051912
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.296_297CA[1] (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
NM_000018.4(ACADVL):c.316_325del (p.Val106fs) rs1057518506
NM_000018.4(ACADVL):c.342+1G>C rs780020193
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.753-2A>C rs398123092
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.809del (p.Pro270fs) rs1567564499
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843

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