ClinVar Miner

List of variants reported as pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.388-14A>G rs372525651 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs) rs777998984 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) rs398123074 0.00002
NM_000016.6(ACADM):c.234T>G (p.Ile78Met) rs1158457053 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.601del (p.Tyr201fs) rs772650083 0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly) rs764268346 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) rs768884003 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter) rs796051896 0.00001
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) rs1648832587 0.00001
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln) rs760335676 0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu) rs150310121 0.00001
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) rs121434275 0.00001
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) rs748110745 0.00001
NM_000016.6(ACADM):c.1194+1G>A rs769331400 0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys) rs139686925 0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.216+2T>C rs398123073 0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.30+2T>C rs768596219 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.599+2T>C rs148260275 0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe) rs751829413 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000016.6(ACADM):c.709-1G>A rs941714381 0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys) rs1348176225 0.00001
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter) rs1462279583 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000016.6(ACADM):c.849+2T>C rs780737237 0.00001
NM_000016.6(ACADM):c.850-2A>G rs761317029 0.00001
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter) rs745793409 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
NC_000001.10:g.(76216232_76226806)_(76229365_?)del
NC_000001.10:g.(?_76190473)_(76200576_?)del
NC_000001.10:g.(?_76194064)_(76216241_?)del
NC_000001.10:g.(?_76198435)_(76205598_?)del
NC_000001.10:g.(?_76211473)_(76228458_?)del
NC_000001.10:g.(?_76228367)_(76228458_?)del
NC_000001.11:g.(?_75541435)_(76074884_?)del
NC_000001.11:g.(?_75724768)_(75724837_?)del
NC_000001.11:g.(?_75724778)_(75724827_?)del
NC_000001.11:g.(?_75724778)_(75750556_?)del
NC_000001.11:g.(?_75724778)_(75762773_?)del
NC_000001.11:g.(?_75761102)_(75762783_?)del
NC_000001.11:g.75745798_75745814TC[2]TTAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTCTTAGGTATTTTTT[1]
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs) rs875989865
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser) rs1323513432
NM_000016.6(ACADM):c.1010dup (p.Tyr337Ter) rs2100452908
NM_000016.6(ACADM):c.1011C>A (p.Tyr337Ter) rs2100452915
NM_000016.6(ACADM):c.1022_1029del (p.Ala341fs) rs2100452990
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
NM_000016.6(ACADM):c.1042del (p.Arg348fs) rs2100453109
NM_000016.6(ACADM):c.1045C>G (p.Arg349Gly) rs148207467
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter) rs1647090485
NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs)
NM_000016.6(ACADM):c.1067T>C (p.Ile356Thr) rs2100453278
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) rs875989875
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.1117G>A (p.Val373Met)
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter) rs2100453612
NM_000016.6(ACADM):c.1167del (p.Lys389fs)
NM_000016.6(ACADM):c.1175G>A (p.Arg392Lys) rs2100453846
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.1186dup (p.Ile396fs)
NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs)
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser) rs1553127216
NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs)
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)
NM_000016.6(ACADM):c.1228_1230del (p.Ile410del)
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) rs1361089796
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)
NM_000016.6(ACADM):c.136_158dup (p.Phe55fs)
NM_000016.6(ACADM):c.165del (p.Phe55fs) rs1319192670
NM_000016.6(ACADM):c.168del (p.Arg57fs) rs2100362712
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.6(ACADM):c.1A>T (p.Met1Leu) rs1057516778
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.203del (p.Asp68fs) rs2100362899
NM_000016.6(ACADM):c.216+1G>A
NM_000016.6(ACADM):c.216+2T>G rs398123073
NM_000016.6(ACADM):c.217-1G>A rs1570861829
NM_000016.6(ACADM):c.217-2A>G rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.232dup (p.Ile78fs) rs2100363479
NM_000016.6(ACADM):c.243_250del (p.Glu83fs) rs2100363563
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter) rs2100332723
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg) rs398123075
NM_000016.6(ACADM):c.260T>C (p.Met87Thr) rs767649048
NM_000016.6(ACADM):c.273dup (p.Pro92fs)
NM_000016.6(ACADM):c.287-2A>G rs1057518677
NM_000016.6(ACADM):c.2T>G (p.Met1Arg)
NM_000016.6(ACADM):c.30+1G>C
NM_000016.6(ACADM):c.30+2T>G rs768596219
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs) rs2100365750
NM_000016.6(ACADM):c.309del (p.Phe103fs)
NM_000016.6(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.6(ACADM):c.331G>A (p.Glu111Lys)
NM_000016.6(ACADM):c.331G>T (p.Glu111Ter)
NM_000016.6(ACADM):c.333_345del (p.Glu111fs) rs1647188308
NM_000016.6(ACADM):c.338C>A (p.Ala113Asp) rs2100365905
NM_000016.6(ACADM):c.342T>A (p.Tyr114Ter) rs2100365911
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs) rs1647188440
NM_000016.6(ACADM):c.343_348del (p.Gly115_Cys116del) rs864621963
NM_000016.6(ACADM):c.355dup (p.Val119fs) rs1553123071
NM_000016.6(ACADM):c.377del (p.Asn126fs) rs2100366089
NM_000016.6(ACADM):c.383dup (p.Leu128fs) rs1647189225
NM_000016.6(ACADM):c.387+1G>A rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del) rs1570866192
NM_000016.6(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.6(ACADM):c.423_425del (p.Lys144del) rs886042087
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.425del (p.Lys142fs) rs886042087
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
NM_000016.6(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.6(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.6(ACADM):c.443G>T (p.Arg148Ile)
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.468+2T>C rs1647214301
NM_000016.6(ACADM):c.468+2T>G rs1647214301
NM_000016.6(ACADM):c.469-1G>A rs875989869
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.475del (p.Cys159fs)
NM_000016.6(ACADM):c.47del (p.Ser16fs) rs1325949559
NM_000016.6(ACADM):c.518del (p.Lys173fs) rs2100389603
NM_000016.6(ACADM):c.520dup (p.Thr174fs)
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr) rs1647480996
NM_000016.6(ACADM):c.573G>A (p.Trp191Ter)
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter) rs1486350523
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro) rs1324329442
NM_000016.6(ACADM):c.614C>T (p.Ala205Val) rs1647865251
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.6(ACADM):c.652del (p.Ala218fs) rs2100408169
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)
NM_000016.6(ACADM):c.65C>G (p.Ser22Ter)
NM_000016.6(ACADM):c.673G>A (p.Glu225Lys) rs886042056
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter) rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.686del (p.Pro229fs) rs1647873033
NM_000016.6(ACADM):c.703A>T (p.Arg235Ter)
NM_000016.6(ACADM):c.706A>T (p.Lys236Ter)
NM_000016.6(ACADM):c.709-2A>C rs1553125211
NM_000016.6(ACADM):c.730T>C (p.Cys244Arg) rs121434276
NM_000016.6(ACADM):c.741_742dup (p.Arg248fs) rs2100417454
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly) rs875989867
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.778_782del (p.Glu260fs) rs2100417619
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) rs1557457623
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter)
NM_000016.6(ACADM):c.799_803del (p.Gly267fs) rs2100417735
NM_000016.6(ACADM):c.801del (p.Ala268fs) rs2100417752
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.823_824dup (p.Ala276fs)
NM_000016.6(ACADM):c.835A>T (p.Lys279Ter)
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr) rs121434282
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.862del (p.Ala288fs)
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu) rs769906625
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.882_883del (p.Arg294fs) rs796051901
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000016.6(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.6(ACADM):c.927del (p.Phe309fs) rs1557458562
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu) rs1057516564
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.6(ACADM):c.973dup (p.Glu325fs) rs1648824675
NM_000016.6(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.6(ACADM):c.982A>G (p.Met328Val) rs1648825926
NM_000016.6(ACADM):c.985A>C (p.Lys329Gln) rs77931234
NM_000016.6(ACADM):c.989_1010del (p.Val330fs) rs1553127172
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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