ClinVar Miner

List of variants reported as likely pathogenic for Very long chain acyl-CoA dehydrogenase deficiency

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ClinVar version:
Total variants: 91
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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.277+1delG rs1555527741
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer) rs1555528508
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) rs1057517281
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1182+2T>C rs1555528635
NM_000018.4(ACADVL):c.1183-1G>A rs1057516818
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter) rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)
NM_000018.4(ACADVL):c.1333-2A>T rs1057517280
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs) rs1057517331
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.138+1G>A rs747351687
NM_000018.4(ACADVL):c.138+2T>C rs1057516817
NM_000018.4(ACADVL):c.139-1G>T
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.1434+2T>G rs1555528804
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000018.4(ACADVL):c.1606-1G>A rs1057517386
NM_000018.4(ACADVL):c.1606-2A>C rs113467582
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.16_32del (p.Met6fs) rs1555527450
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs) rs1555529004
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648
NM_000018.4(ACADVL):c.1751+1G>A rs1567569262
NM_000018.4(ACADVL):c.1751+2T>C
NM_000018.4(ACADVL):c.1752-2del rs1555529044
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer) rs1057516226
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.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.205-2A>G
NM_000018.4(ACADVL):c.249_250CA[1] (p.Thr84fs) rs1452339268
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter) rs1555527732
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+1G>T rs1057517012
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.299_305del (p.Gln100fs) rs1555527806
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.33del (p.Arg12fs) rs1555527464
NM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter) rs1555527907
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile) rs768236474
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.478-1G>C rs1057517130
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903
NM_000018.4(ACADVL):c.623-2_623-1del rs1555528265
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
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.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
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.830_832AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888
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.891del (p.Lys298fs) rs1057517180
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843

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