ClinVar Miner

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

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Gene type:
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Total variants: 125
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HGVS dbSNP
NM_000016.5(ACADM):c.*133T>C rs193140641
NM_000016.5(ACADM):c.*284C>T rs886046525
NM_000016.5(ACADM):c.*317C>T rs886046526
NM_000016.5(ACADM):c.*44T>C rs374993494
NM_000016.5(ACADM):c.*63dup rs1400150313
NM_000016.5(ACADM):c.*825del rs199923099
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-17C>G rs367734665
NM_000016.5(ACADM):c.-29T>C rs763024539
NM_000016.5(ACADM):c.-304A>G rs886046521
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.5(ACADM):c.-403C>T rs886046518
NM_000016.5(ACADM):c.-50A>T rs753411141
NM_000016.5(ACADM):c.-92A>G rs567983446
NM_000016.5(ACADM):c.1012C>G (p.Gln338Glu) rs796051896
NM_000016.5(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.5(ACADM):c.1057T>G (p.Tyr353Asp) rs875989856
NM_000016.5(ACADM):c.1073A>T (p.Lys358Met) rs988752772
NM_000016.5(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) rs150710061
NM_000016.5(ACADM):c.1115C>A (p.Ala372Asp) rs781424858
NM_000016.5(ACADM):c.1125A>G (p.Ile375Met) rs201809827
NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.5(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.5(ACADM):c.1194+3A>G rs369945009
NM_000016.5(ACADM):c.1205G>T (p.Gly402Val) rs1553127382
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1249_1251del (p.Asp417del) rs1553127399
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.1264T>G (p.Ter422Glu) rs1553127400
NM_000016.5(ACADM):c.1265A>T (p.Ter422Leu) rs200376609
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.131A>G (p.Gln44Arg) rs751647383
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.158G>A (p.Arg53His) rs754938068
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.212G>A (p.Gly71Asp) rs1553122943
NM_000016.5(ACADM):c.238A>G (p.Arg80Gly) rs758476299
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.295G>A (p.Gly99Arg) rs875989858
NM_000016.5(ACADM):c.296G>T (p.Gly99Val) rs370608001
NM_000016.5(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.5(ACADM):c.356T>A (p.Val119Asp) rs1553123077
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.5(ACADM):c.387+2dup rs1553123086
NM_000016.5(ACADM):c.388-19T>A rs1553123252
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.393G>A (p.Met131Ile) rs368773005
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.508G>T (p.Ala170Ser) rs763613689
NM_000016.5(ACADM):c.50G>A (p.Arg17His) rs17848070
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.57T>C (p.His19=) rs762984318
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.599+3A>G rs375921211
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.602A>G (p.Tyr201Cys) rs875989871
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.661G>A (p.Gly221Arg) rs753627680
NM_000016.5(ACADM):c.666C>A (p.Phe222Leu) rs139457557
NM_000016.5(ACADM):c.708+6G>T rs958629659
NM_000016.5(ACADM):c.709-13A>G rs746483754
NM_000016.5(ACADM):c.728G>A (p.Arg243Gln) rs373852490
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.850-3_850-2insTAAAAT rs1553125391
NM_000016.5(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA rs1553125389
NM_000016.5(ACADM):c.86G>T (p.Arg29Leu)
NM_000016.5(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.5(ACADM):c.946-6T>G rs765793260
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.6(ACADM):c.*177G>C
NM_000016.6(ACADM):c.*427T>A
NM_000016.6(ACADM):c.*826T>C
NM_000016.6(ACADM):c.-78G>C
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro)
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu)
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val)
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu)
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys)
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser)
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg)
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
NM_000016.6(ACADM):c.576A>G (p.Ile192Met)
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser)
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
NM_000016.6(ACADM):c.785T>A (p.Val262Asp)
NM_000016.6(ACADM):c.865G>T (p.Val289Phe)
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_001286042.1(ACADM):c.10+3629_10+3631dup rs760137614
NM_001286044.1(ACADM):c.-100+670_-100+671delinsCA rs1553123069
NM_001286044.1(ACADM):c.-151_-149AGA[1] rs1553122972
NM_001286044.1(ACADM):c.-29_-27del rs776120077
NM_001286044.1(ACADM):c.-32_1del (p.Met1del) rs1553123869
NM_001286044.1(ACADM):c.-58_-41del rs1553123864

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