ClinVar Miner

List of variants studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Counsyl

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ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_000016.5(ACADM):c.-17C>G rs367734665
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.1045del (p.Arg349fs) rs1057516463
NM_000016.5(ACADM):c.1073A>T (p.Lys358Met) rs988752772
NM_000016.5(ACADM):c.1073del (p.Lys358fs) rs1057517411
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) rs748110745
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.118+1G>T rs113887538
NM_000016.5(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.5(ACADM):c.1194+1G>A rs769331400
NM_000016.5(ACADM):c.1195-1G>C rs1553127378
NM_000016.5(ACADM):c.1195-2A>T rs879234543
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.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.5(ACADM):c.212G>A (p.Gly71Asp) rs1553122943
NM_000016.5(ACADM):c.216+1G>T rs1057516801
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.286+2T>G rs1553122996
NM_000016.5(ACADM):c.30+2T>C rs768596219
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.356T>A (p.Val119Asp) rs1553123077
NM_000016.5(ACADM):c.387+1G>A rs1057516983
NM_000016.5(ACADM):c.387+1G>T rs1057516983
NM_000016.5(ACADM):c.387+1del rs786204424
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.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.5(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.5(ACADM):c.469-2A>C rs1553123857
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.542A>G (p.Asp181Gly) rs1553123872
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+1G>A rs866388216
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_000016.5(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.708+2T>G rs1553124805
NM_000016.5(ACADM):c.708+6G>T rs958629659
NM_000016.5(ACADM):c.709-13A>G rs746483754
NM_000016.5(ACADM):c.709-1G>A rs941714381
NM_000016.5(ACADM):c.709-2A>C rs1553125211
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.826_828delinsCC (p.Ala276fs) rs1553125264
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.850-2A>G rs761317029
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.907G>A (p.Ala303Thr) rs875989855
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.946-2A>C rs758753966
NM_000016.5(ACADM):c.946-6T>G rs765793260
NM_000016.5(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.5(ACADM):c.955_956AT[1] (p.Ser320fs) rs1057517103
NM_000016.5(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.5(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_001286042.1(ACADM):c.10+3629_10+3631dup rs760137614
NM_001286042.1(ACADM):c.10+3660_10+3666dup rs875989875
NM_001286044.1(ACADM):c.-100+1905AAG[2] rs875989857
NM_001286044.1(ACADM):c.-100+1918del rs749529577
NM_001286044.1(ACADM):c.-122_-121CA[3] rs766173642
NM_001286044.1(ACADM):c.-162del rs1057516480
NM_001286044.1(ACADM):c.-217_-216AG[2] rs1057517179
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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