ClinVar Miner

List of variants in gene ACADM reported as uncertain significance for Medium-chain acyl-coenzyme A dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.*826T>C rs200617844 0.00301
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000016.6(ACADM):c.*133T>C rs193140641 0.00117
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) rs374358376 0.00028
NM_000016.5(ACADM):c.-403C>T rs886046518 0.00024
NM_000016.6(ACADM):c.-29T>C rs763024539 0.00018
NM_000016.6(ACADM):c.*44T>C rs374993494 0.00016
NM_000016.6(ACADM):c.-17C>G rs367734665 0.00013
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser) rs763613689 0.00013
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly) rs768440594 0.00006
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu) rs200376609 0.00006
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg) rs751647383 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg) rs886042055 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000016.5(ACADM):c.-304A>G rs886046521 0.00002
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met) rs201809827 0.00002
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.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.393G>A (p.Met131Ile) rs368773005 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.927C>T (p.Phe309=) rs771550655 0.00002
NM_000016.6(ACADM):c.*317C>T rs886046526 0.00001
NM_000016.6(ACADM):c.-50A>T rs753411141 0.00001
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) rs886042054 0.00001
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val) rs758973773 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1194+3A>G rs369945009 0.00001
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val) rs1181589709 0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys) rs139686925 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile) rs759997176 0.00001
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile) rs927784210 0.00001
NM_000016.6(ACADM):c.271_273del (p.Ile91del) rs1463718964 0.00001
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys) rs752612962 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser) rs1647480996 0.00001
NM_000016.6(ACADM):c.56A>G (p.His19Arg) rs1446893994 0.00001
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser) rs1010454733 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.667A>G (p.Ile223Val) rs747783631 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NC_000001.10:g.(?_76190473)_(76228448_?)dup
NC_000001.10:g.(?_76205645)_(76228448_?)dup
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.6(ACADM):c.*177G>C rs1311764448
NM_000016.6(ACADM):c.*284C>T rs886046525
NM_000016.6(ACADM):c.*427T>A rs551943304
NM_000016.6(ACADM):c.*5delA
NM_000016.6(ACADM):c.*63dup rs1400150313
NM_000016.6(ACADM):c.*825del rs199923099
NM_000016.6(ACADM):c.-78G>C rs908019570
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn) rs794727013
NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu) rs796051896
NM_000016.6(ACADM):c.101G>T (p.Gly34Val)
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr) rs1424545377
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1043G>A (p.Arg348His)
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.1057T>G (p.Tyr353Asp) rs875989856
NM_000016.6(ACADM):c.1070C>G (p.Ala357Gly)
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met) rs988752772
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro) rs1224909875
NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)
NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser) rs2100453501
NM_000016.6(ACADM):c.1117G>C (p.Val373Leu)
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu) rs1057518630
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu) rs1648844304
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.119-12A>G
NM_000016.6(ACADM):c.1194+6G>A
NM_000016.6(ACADM):c.1197T>G (p.Ile399Met)
NM_000016.6(ACADM):c.11G>T (p.Gly4Val)
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val) rs1553127382
NM_000016.6(ACADM):c.120G>C (p.Glu40Asp)
NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu)
NM_000016.6(ACADM):c.1217T>G (p.Ile406Ser)
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del) rs1553127399
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu) rs1553127400
NM_000016.6(ACADM):c.139G>A (p.Glu47Lys) rs2100362559
NM_000016.6(ACADM):c.154_156del (p.Ala52del) rs2100362599
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu) rs1024056446
NM_000016.6(ACADM):c.160A>C (p.Lys54Gln)
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)
NM_000016.6(ACADM):c.202G>A (p.Asp68Asn) rs2100362891
NM_000016.6(ACADM):c.206A>G (p.Lys69Arg) rs927784210
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp) rs1553122943
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del) rs1553122972
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr) rs1647171392
NM_000016.6(ACADM):c.265A>C (p.Thr89Pro) rs371194356
NM_000016.6(ACADM):c.286+6C>T
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser) rs1553123053
NM_000016.6(ACADM):c.295G>A (p.Gly99Arg) rs875989858
NM_000016.6(ACADM):c.30+5G>C
NM_000016.6(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.6(ACADM):c.307T>C (p.Phe103Leu)
NM_000016.6(ACADM):c.31-12T>G
NM_000016.6(ACADM):c.31-13G>A
NM_000016.6(ACADM):c.31-5T>A
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg) rs1647188135
NM_000016.6(ACADM):c.32T>C (p.Val11Ala)
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.351_352delinsCA (p.Gly118Arg) rs1553123069
NM_000016.6(ACADM):c.352G>T (p.Gly118Trp)
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.356T>A (p.Val119Asp) rs1553123077
NM_000016.6(ACADM):c.371A>G (p.Glu124Gly) rs759305231
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro) rs1647189185
NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr)
NM_000016.6(ACADM):c.382T>G (p.Leu128Val)
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.6(ACADM):c.387+2dup rs1553123086
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.404T>C (p.Ile135Thr)
NM_000016.6(ACADM):c.455A>G (p.Glu152Gly)
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.468+11G>A
NM_000016.6(ACADM):c.468+3G>T
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp) rs1647214213
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.509C>A (p.Ala170Asp)
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del) rs1553123864
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.532A>C (p.Lys178Gln)
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.539_541del (p.Gly180del) rs776120077
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.564G>A (p.Gln188=) rs1647481720
NM_000016.6(ACADM):c.576A>G (p.Ile192Met) rs1647482271
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.595A>G (p.Asn199Asp) rs1468901075
NM_000016.6(ACADM):c.598T>C (p.Trp200Arg)
NM_000016.6(ACADM):c.602A>G (p.Tyr201Cys) rs875989871
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.6(ACADM):c.625C>G (p.Pro209Ala) rs765741682
NM_000016.6(ACADM):c.640C>G (p.Pro214Ala) rs1040699870
NM_000016.6(ACADM):c.643G>C (p.Ala215Pro)
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
NM_000016.6(ACADM):c.656T>G (p.Phe219Cys) rs2100408210
NM_000016.6(ACADM):c.694C>G (p.Gln232Glu) rs2100408490
NM_000016.6(ACADM):c.708+3A>G rs2100408597
NM_000016.6(ACADM):c.708+6G>A rs958629659
NM_000016.6(ACADM):c.708+6G>T rs958629659
NM_000016.6(ACADM):c.719T>C (p.Met240Thr)
NM_000016.6(ACADM):c.71A>G (p.His24Arg)
NM_000016.6(ACADM):c.725A>G (p.Gln242Arg)
NM_000016.6(ACADM):c.746G>A (p.Gly249Glu) rs1648077584
NM_000016.6(ACADM):c.751G>A (p.Val251Ile)
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup) rs760137614
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu) rs1022879056
NM_000016.6(ACADM):c.775A>G (p.Lys259Glu)
NM_000016.6(ACADM):c.77A>C (p.Lys26Thr) rs2100347143
NM_000016.6(ACADM):c.785T>A (p.Val262Asp) rs1489192992
NM_000016.6(ACADM):c.806G>A (p.Gly269Asp)
NM_000016.6(ACADM):c.813A>C (p.Lys271Asn)
NM_000016.6(ACADM):c.839C>G (p.Thr280Ser)
NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT rs1553125391
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA rs1553125389
NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla)
NM_000016.6(ACADM):c.865G>T (p.Val289Phe) rs1648137997
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.87A>G (p.Arg29=) rs2100347177
NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile)
NM_000016.6(ACADM):c.891T>A (p.Asp297Glu)
NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla)
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.6(ACADM):c.927C>G (p.Phe309Leu) rs771550655
NM_000016.6(ACADM):c.946-2dup rs1648822448
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.947A>T (p.His316Leu)
NM_000016.6(ACADM):c.955A>G (p.Ile319Val)
NM_000016.6(ACADM):c.98C>G (p.Pro33Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.