ClinVar Miner

List of variants in gene ACADVL reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 143
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HGVS dbSNP gnomAD frequency
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.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 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.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000018.4(ACADVL):c.1000A>G (p.Met334Val) rs1487767890 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.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.1533-2A>C rs996348255 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.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318 0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly) rs767063791 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.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser) rs762653370 0.00001
NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)
NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
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.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)
NM_000018.4(ACADVL):c.1183-2A>C
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg) rs113994169
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
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.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=) rs1597534796
NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)
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.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.1469C>G (p.Ala490Gly)
NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)
NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1533-2A>G
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg) rs370282954
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.1639G>A (p.Val547Met) rs2071384107
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1679-1G>A
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.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.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.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.215C>T (p.Ser72Phe) rs1161495077
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.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.278-1G>A rs1298004609
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)
NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)
NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)
NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg) rs2142969408
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser) rs794727773
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro) rs1555527925
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp) rs794727772
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.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.514C>T (p.Leu172Phe)
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)
NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)
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.638C>T (p.Ala213Val) rs2071252145
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.665G>C (p.Gly222Ala)
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)
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.839C>G (p.Thr280Arg)
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile) rs2142978093
NM_000018.4(ACADVL):c.852G>A (p.Val284=)
NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)
NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)
NM_000018.4(ACADVL):c.879-1G>A rs2071286572
NM_000018.4(ACADVL):c.879-2A>G
NM_000018.4(ACADVL):c.879-88_896del rs2142979402
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala) rs1327386820
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp) rs1205407134

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