ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 379
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu) rs1231343685 0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888 0.00002
NM_000018.4(ACADVL):c.1000A>G (p.Met334Val) rs1487767890 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr) rs1567565733 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857 0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter) rs1451455641 0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=) rs765356942 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) rs1175359422 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1533-2A>C rs996348255 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472 0.00001
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp) rs1458941582 0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg) rs748329498 0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318 0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401 0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly) rs767063791 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.770del (p.Asp257fs) rs2071264706 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly) rs751556332 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met) rs771247610 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser) rs762653370 0.00001
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.3(ACADVL):c.625del rs2071251239
NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)
NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs) rs1567565643
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer) rs1555528508
NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu) rs1227564457
NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val) rs1343647718
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) rs2071296591
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs) rs1402646371
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077_1077+1del rs2142980883
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1078-2A>G rs2142981920
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)
NM_000018.4(ACADVL):c.1096C>G (p.Arg366Gly) rs771874163
NM_000018.4(ACADVL):c.1097G>C (p.Arg366Pro)
NM_000018.4(ACADVL):c.1097G>T (p.Arg366Leu)
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs) rs1567566228
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) rs1057517281
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1145del (p.Lys382fs) rs1281137823
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter) rs2071316298
NM_000018.4(ACADVL):c.1182+2T>C rs1555528635
NM_000018.4(ACADVL):c.1183-1G>A rs1057516818
NM_000018.4(ACADVL):c.1183-2A>C
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg) rs113994169
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)
NM_000018.4(ACADVL):c.1234del (p.Gln412fs)
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1251del (p.Ser418fs) rs2142984544
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter) rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter) rs1597534677
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr) rs2071345821
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu) rs748450834
NM_000018.4(ACADVL):c.1313G>C (p.Gly438Ala)
NM_000018.4(ACADVL):c.1315G>C (p.Gly439Arg) rs2071346311
NM_000018.4(ACADVL):c.1315G>T (p.Gly439Cys) rs2071346311
NM_000018.4(ACADVL):c.1316G>T (p.Gly439Val) rs533055438
NM_000018.4(ACADVL):c.1316del (p.Gly439fs) rs748077880
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=) rs1597534796
NM_000018.4(ACADVL):c.1333-2A>T rs1057517280
NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs) rs1057517331
NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro) rs794727112
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly) rs766742117
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.139-1G>A
NM_000018.4(ACADVL):c.139-1G>C
NM_000018.4(ACADVL):c.139-1G>T rs1597518019
NM_000018.4(ACADVL):c.139-1_139delinsTT rs2142963941
NM_000018.4(ACADVL):c.139-2A>G
NM_000018.4(ACADVL):c.139-2A>T
NM_000018.4(ACADVL):c.1409del (p.Leu470fs) rs2071356603
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)
NM_000018.4(ACADVL):c.1434+2T>G rs1555528804
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs) rs1567560601
NM_000018.4(ACADVL):c.1469C>G (p.Ala490Gly)
NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del) rs762619071
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
NM_000018.4(ACADVL):c.1508del (p.Gly503fs) rs1214222702
NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1532+1G>A rs727503794
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1533-2A>G
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs) rs2071371983
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg) rs370282954
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
NM_000018.4(ACADVL):c.1557del (p.Ser520fs) rs2071373150
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter) rs2071146837
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000018.4(ACADVL):c.1605+2T>A rs1597537351
NM_000018.4(ACADVL):c.1605+2T>C rs1597537351
NM_000018.4(ACADVL):c.1606-1G>A rs1057517386
NM_000018.4(ACADVL):c.1606-2A>C rs113467582
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
NM_000018.4(ACADVL):c.1612del (p.Arg538fs) rs1555528937
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1619T>C (p.Leu540Pro)
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1639G>A (p.Val547Met) rs2071384107
NM_000018.4(ACADVL):c.1678+1G>T
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1679-1G>A
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs) rs2071393587
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs) rs1555529004
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs) rs2071395312
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs) rs1057518411
NM_000018.4(ACADVL):c.1747T>G (p.Ser583Ala)
NM_000018.4(ACADVL):c.1751+1G>A rs1567569262
NM_000018.4(ACADVL):c.1751+2T>A rs1597539537
NM_000018.4(ACADVL):c.1751+2T>C rs1597539537
NM_000018.4(ACADVL):c.1752-2A>G
NM_000018.4(ACADVL):c.1752-2del rs1555529044
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer) rs1057516226
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)
NM_000018.4(ACADVL):c.1820G>T (p.Cys607Phe)
NM_000018.4(ACADVL):c.1838G>T (p.Arg613Leu)
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter) rs2142964399
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.1924G>A (p.Val642Met)
NM_000018.4(ACADVL):c.1925T>C (p.Val642Ala)
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.192dup (p.Pro65fs) rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.200_204+19del
NM_000018.4(ACADVL):c.201_204+13del
NM_000018.4(ACADVL):c.204+1G>T
NM_000018.4(ACADVL):c.205-1G>C rs2142965332
NM_000018.4(ACADVL):c.205-2A>G rs1597518954
NM_000018.4(ACADVL):c.205-2A>T rs1597518954
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter) rs796051912
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)
NM_000018.4(ACADVL):c.238G>C (p.Gly80Arg)
NM_000018.4(ACADVL):c.239G>A (p.Gly80Asp) rs1460278489
NM_000018.4(ACADVL):c.239G>C (p.Gly80Ala)
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs) rs1452339268
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter) rs1555527732
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.267del (p.Tyr90fs)
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.277+1G>T rs1057517012
NM_000018.4(ACADVL):c.277+1del rs1555527741
NM_000018.4(ACADVL):c.277+2T>A
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
NM_000018.4(ACADVL):c.278-1G>A rs1298004609
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs) rs2071168842
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs) rs1555527806
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.316_325del (p.Val106fs) rs1057518506
NM_000018.4(ACADVL):c.335del (p.Phe112fs) rs764028320
NM_000018.4(ACADVL):c.335dup (p.Phe113fs)
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)
NM_000018.4(ACADVL):c.342+1G>A
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter) rs370146676
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)
NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)
NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)
NM_000018.4(ACADVL):c.388del (p.Glu130fs) rs2142969054
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter) rs1555527907
NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg) rs2142969408
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu) rs2071185757
NM_000018.4(ACADVL):c.421dup (p.Ala141fs) rs2071185652
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser) rs794727773
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro) rs1555527925
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.441del (p.Ser148fs) rs2142969688
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp) rs794727772
NM_000018.4(ACADVL):c.475del (p.Gln159fs)
NM_000018.4(ACADVL):c.477+1G>A
NM_000018.4(ACADVL):c.477+1G>C rs2142969951
NM_000018.4(ACADVL):c.477+2T>G
NM_000018.4(ACADVL):c.478-1G>C rs1057517130
NM_000018.4(ACADVL):c.479_486del
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter) rs371910495
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.481G>T (p.Ala161Ser)
NM_000018.4(ACADVL):c.482C>A (p.Ala161Asp)
NM_000018.4(ACADVL):c.490G>A (p.Val164Met)
NM_000018.4(ACADVL):c.490G>T (p.Val164Leu)
NM_000018.4(ACADVL):c.491T>A (p.Val164Glu)
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu) rs2071227581
NM_000018.4(ACADVL):c.514C>T (p.Leu172Phe)
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs) rs1258134795
NM_000018.4(ACADVL):c.589del (p.Gln197fs)
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys) rs1597525536
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)
NM_000018.4(ACADVL):c.604del (p.Leu202fs)
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.623-19_623-3del
NM_000018.4(ACADVL):c.623-1G>A rs1597526782
NM_000018.4(ACADVL):c.623-2_623-1del rs1555528265
NM_000018.4(ACADVL):c.626dup (p.Thr210fs) rs2142976531
NM_000018.4(ACADVL):c.632_633del (p.Val211fs) rs1489679976
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val) rs2071252145
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.643T>C (p.Cys215Arg)
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) rs1432183079
NM_000018.4(ACADVL):c.655C>T (p.Pro219Ser)
NM_000018.4(ACADVL):c.656C>A (p.Pro219His)
NM_000018.4(ACADVL):c.656C>T (p.Pro219Leu)
NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter) rs2071253904
NM_000018.4(ACADVL):c.676del (p.Ala226fs) rs2071254166
NM_000018.4(ACADVL):c.688dup (p.Thr230fs) rs2071255080
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys) rs575789958
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr)
NM_000018.4(ACADVL):c.740A>G (p.Lys247Arg) rs2142977168
NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)
NM_000018.4(ACADVL):c.753-2A>G rs398123092
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr) rs1197133430
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs) rs2071266269
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.809del (p.Pro270fs) rs1567564499
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.839C>G (p.Thr280Arg)
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile) rs2142978093
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
NM_000018.4(ACADVL):c.852G>A (p.Val284=)
NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
NM_000018.4(ACADVL):c.879-1G>A rs2071286572
NM_000018.4(ACADVL):c.879-2A>G
NM_000018.4(ACADVL):c.879-2_879-1del
NM_000018.4(ACADVL):c.879-88_896del rs2142979402
NM_000018.4(ACADVL):c.879-8T>A rs2071286355
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala) rs1327386820
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.891del (p.Lys298fs) rs1057517180
NM_000018.4(ACADVL):c.900G>A (p.Met300Ile) rs2071288305
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs) rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp) rs1205407134
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.[1097G>A;869del]

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