ClinVar Miner

List of variants reported as likely pathogenic for medium chain acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 225
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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.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 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.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.599+3A>G rs375921211 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.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.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.1055A>G (p.Tyr352Cys) rs1227800781 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 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.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.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.30+2T>C rs768596219 0.00001
NM_000016.6(ACADM):c.30+4A>G rs774531501 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.395C>G (p.Pro132Arg) rs875989854 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.599+5G>A rs875989861 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.659C>T (p.Thr220Ile) rs766249735 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn) rs1185026485 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.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.92G>A (p.Arg31His) rs529894272 0.00001
NC_000001.10:g.(?_76190031)_(76229365_?)del
NC_000001.10:g.(?_76199203)_(76205805_?)dup
NC_000001.10:g.(?_76211471)_(76211619_?)dup
NC_000001.10:g.(?_76211471)_(76227075_?)dup
NC_000001.10:g.(?_76216126)_(76216241_?)del
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.1036_1045delinsAAT (p.Ser346fs)
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
NM_000016.6(ACADM):c.1045del (p.Arg349fs) rs1057516463
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.1054T>G (p.Tyr352Asp) rs1557466834
NM_000016.6(ACADM):c.1066A>G (p.Ile356Val)
NM_000016.6(ACADM):c.1068_1071dup (p.Lys358fs) rs2100453287
NM_000016.6(ACADM):c.1073del (p.Lys358fs) rs1057517411
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) rs875989875
NM_000016.6(ACADM):c.1097del (p.Asn366fs)
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.1129G>T (p.Gly377Ter)
NM_000016.6(ACADM):c.1169_1170del (p.Leu390fs)
NM_000016.6(ACADM):c.1177G>A (p.Asp393Asn)
NM_000016.6(ACADM):c.117del (p.Phe39fs)
NM_000016.6(ACADM):c.118+10C>A
NM_000016.6(ACADM):c.118+1G>T rs113887538
NM_000016.6(ACADM):c.1188C>G (p.Ile396Met)
NM_000016.6(ACADM):c.119-1G>C rs1647165465
NM_000016.6(ACADM):c.1194+1dup
NM_000016.6(ACADM):c.1194+2T>G
NM_000016.6(ACADM):c.1195-1G>C rs1553127378
NM_000016.6(ACADM):c.1195-2A>C
NM_000016.6(ACADM):c.1195-2A>T rs879234543
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) rs1361089796
NM_000016.6(ACADM):c.1237del (p.Arg413fs)
NM_000016.6(ACADM):c.1250_1253delinsCT (p.Asp417fs)
NM_000016.6(ACADM):c.1250_1256del (p.Asp417fs)
NM_000016.6(ACADM):c.1253A>G (p.Lys418Arg)
NM_000016.6(ACADM):c.135G>C (p.Gln45His)
NM_000016.6(ACADM):c.165del (p.Phe55fs) rs1319192670
NM_000016.6(ACADM):c.166G>C (p.Ala56Pro)
NM_000016.6(ACADM):c.173_174del (p.Glu58fs) rs1057517179
NM_000016.6(ACADM):c.193dup (p.Ala65fs)
NM_000016.6(ACADM):c.19C>T (p.Arg7Ter) rs1455996178
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.205A>T (p.Lys69Ter)
NM_000016.6(ACADM):c.212del (p.Gly71fs)
NM_000016.6(ACADM):c.216+1G>T rs1057516801
NM_000016.6(ACADM):c.217-1G>A rs1570861829
NM_000016.6(ACADM):c.217-1del
NM_000016.6(ACADM):c.217-2A>C
NM_000016.6(ACADM):c.217-2A>G rs1647169738
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu) rs1647169888
NM_000016.6(ACADM):c.222del (p.Val75fs)
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.232A>G (p.Ile78Val) rs2100363487
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.245G>A (p.Trp82Ter)
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter) rs2100332723
NM_000016.6(ACADM):c.260T>C (p.Met87Thr) rs767649048
NM_000016.6(ACADM):c.270_271del (p.Ile91fs) rs766173642
NM_000016.6(ACADM):c.270_271dup (p.Ile91fs)
NM_000016.6(ACADM):c.286+2T>G rs1553122996
NM_000016.6(ACADM):c.287-1G>A
NM_000016.6(ACADM):c.287-1G>C rs794727694
NM_000016.6(ACADM):c.287-2A>G rs1057518677
NM_000016.6(ACADM):c.30+1G>C
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs) rs2100365750
NM_000016.6(ACADM):c.308T>A (p.Phe103Tyr)
NM_000016.6(ACADM):c.31-1G>C
NM_000016.6(ACADM):c.31-2A>G rs766727876
NM_000016.6(ACADM):c.310G>A (p.Asp104Asn) rs2100365770
NM_000016.6(ACADM):c.311A>G (p.Asp104Gly) rs1647187729
NM_000016.6(ACADM):c.321A>C (p.Leu107Phe) rs2100365813
NM_000016.6(ACADM):c.321_322del (p.Leu107fs)
NM_000016.6(ACADM):c.337G>A (p.Ala113Thr) rs1570863351
NM_000016.6(ACADM):c.341A>G (p.Tyr114Cys)
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.348T>A (p.Cys116Ter)
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.383dup (p.Leu128fs) rs1647189225
NM_000016.6(ACADM):c.387+1G>T rs1057516983
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.387+2T>A
NM_000016.6(ACADM):c.387+2T>C
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.388-1G>A rs2100370448
NM_000016.6(ACADM):c.395C>A (p.Pro132His)
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.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.454G>T (p.Glu152Ter) rs1557446524
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.467del (p.Cys156fs)
NM_000016.6(ACADM):c.469-2A>C rs1553123857
NM_000016.6(ACADM):c.469-2A>G
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000016.6(ACADM):c.474T>A (p.Tyr158Ter)
NM_000016.6(ACADM):c.47del (p.Ser16fs) rs1325949559
NM_000016.6(ACADM):c.493G>A (p.Ala165Thr)
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly) rs745844469
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.530A>G (p.Glu177Gly)
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr) rs1647480996
NM_000016.6(ACADM):c.555T>G (p.Ile185Met) rs1647481193
NM_000016.6(ACADM):c.556_557del (p.Asn186fs)
NM_000016.6(ACADM):c.567del (p.Met190fs)
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.584G>A (p.Gly195Glu)
NM_000016.6(ACADM):c.589A>G (p.Lys197Glu) rs1199770829
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.600-1G>A rs2100407767
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.608dup (p.Leu203fs)
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro) rs1324329442
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.652G>A (p.Ala218Thr)
NM_000016.6(ACADM):c.659C>G (p.Thr220Ser)
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.683C>T (p.Thr228Ile) rs149678400
NM_000016.6(ACADM):c.708+1G>A rs1553124803
NM_000016.6(ACADM):c.708+2T>G rs1553124805
NM_000016.6(ACADM):c.709-2A>C rs1553125211
NM_000016.6(ACADM):c.709-2A>G
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter) rs1570891615
NM_000016.6(ACADM):c.712_715del (p.Leu238fs)
NM_000016.6(ACADM):c.721G>A (p.Gly241Ser) rs2100417374
NM_000016.6(ACADM):c.744A>C (p.Arg248Ser) rs2100417476
NM_000016.6(ACADM):c.778_782del (p.Glu260fs) rs2100417619
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.820A>G (p.Met274Val)
NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) rs1553125264
NM_000016.6(ACADM):c.830_831dup (p.Asp278fs)
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.859G>C (p.Gly287Arg)
NM_000016.6(ACADM):c.865G>A (p.Val289Ile)
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.890A>G (p.Asp297Gly)
NM_000016.6(ACADM):c.913G>T (p.Glu305Ter) rs1215335509
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000016.6(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.6(ACADM):c.945+1G>A
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.6(ACADM):c.950A>T (p.Gln317Leu) rs1557466604
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.977T>C (p.Met326Thr) rs786204631
NM_000016.6(ACADM):c.982A>G (p.Met328Val) rs1648825926
NM_000016.6(ACADM):c.983T>C (p.Met328Thr)
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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