ClinVar Miner

List of variants reported as likely benign for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
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.945+19G>A rs200091478 0.00036
NM_000016.6(ACADM):c.187G>C (p.Val63Leu) rs149308824 0.00019
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000016.6(ACADM):c.600-19C>T rs747837034 0.00009
NM_000016.6(ACADM):c.1032T>A (p.Val344=) rs774315514 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000016.6(ACADM):c.945+9A>G rs768654898 0.00006
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.426G>A (p.Lys142=) rs565131848 0.00004
NM_000016.6(ACADM):c.468+19C>T rs762564037 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000016.6(ACADM):c.960A>G (p.Ser320=) rs138728545 0.00004
NM_000016.6(ACADM):c.118+10C>T rs202218503 0.00003
NM_000016.6(ACADM):c.287-16C>T rs368504798 0.00003
NM_000016.6(ACADM):c.456G>A (p.Glu152=) rs771055994 0.00003
NM_000016.6(ACADM):c.657T>C (p.Phe219=) rs758331876 0.00003
NM_000016.6(ACADM):c.687A>C (p.Pro229=) rs368276871 0.00003
NM_000016.6(ACADM):c.735A>T (p.Ser245=) rs1451872855 0.00003
NM_000016.6(ACADM):c.12G>C (p.Gly4=) rs757845443 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.474T>C (p.Tyr158=) rs757198475 0.00002
NM_000016.6(ACADM):c.6A>C (p.Ala2=) rs752190688 0.00002
NM_000016.6(ACADM):c.798C>T (p.Asp266=) rs765170454 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000016.6(ACADM):c.1077A>G (p.Ala359=) rs373828881 0.00001
NM_000016.6(ACADM):c.1167A>G (p.Lys389=) rs1426726206 0.00001
NM_000016.6(ACADM):c.1194+9A>G rs1570910495 0.00001
NM_000016.6(ACADM):c.1206T>C (p.Gly402=) rs775020164 0.00001
NM_000016.6(ACADM):c.1239T>C (p.Arg413=) rs767921195 0.00001
NM_000016.6(ACADM):c.126C>T (p.Thr42=) rs765625793 0.00001
NM_000016.6(ACADM):c.171A>G (p.Arg57=) rs1419381234 0.00001
NM_000016.6(ACADM):c.195A>C (p.Ala65=) rs771649282 0.00001
NM_000016.6(ACADM):c.216+7A>G rs1469967408 0.00001
NM_000016.6(ACADM):c.21A>G (p.Arg7=) rs906559903 0.00001
NM_000016.6(ACADM):c.229C>T (p.Leu77=) rs749859620 0.00001
NM_000016.6(ACADM):c.287-6C>T rs771099349 0.00001
NM_000016.6(ACADM):c.287-7dup rs886042084 0.00001
NM_000016.6(ACADM):c.30+8G>A rs760526492 0.00001
NM_000016.6(ACADM):c.31-5T>C rs756654520 0.00001
NM_000016.6(ACADM):c.34C>T (p.Leu12=) rs562722132 0.00001
NM_000016.6(ACADM):c.363T>C (p.Thr121=) rs766081723 0.00001
NM_000016.6(ACADM):c.382T>C (p.Leu128=) rs764651997 0.00001
NM_000016.6(ACADM):c.388-6C>T rs776623274 0.00001
NM_000016.6(ACADM):c.402T>A (p.Ile134=) rs757821130 0.00001
NM_000016.6(ACADM):c.469-4C>G rs1244966116 0.00001
NM_000016.6(ACADM):c.600-6T>C rs771343450 0.00001
NM_000016.6(ACADM):c.610T>C (p.Leu204=) rs776993753 0.00001
NM_000016.6(ACADM):c.705A>G (p.Arg235=) rs1647874596 0.00001
NM_000016.6(ACADM):c.756C>T (p.Phe252=) rs749692458 0.00001
NM_000016.6(ACADM):c.771G>A (p.Val257=) rs762143899 0.00001
NM_000016.6(ACADM):c.90A>G (p.Gln30=) rs1047139742 0.00001
NM_000016.6(ACADM):c.936A>T (p.Leu312=) rs770989035 0.00001
NM_000016.6(ACADM):c.981A>C (p.Ala327=) rs951841268 0.00001
NM_000016.6(ACADM):c.*5dup (p.Ter422=) rs3841786
NM_000016.6(ACADM):c.1017A>G (p.Arg339=)
NM_000016.6(ACADM):c.1023T>C (p.Ala341=)
NM_000016.6(ACADM):c.1029G>A (p.Glu343=)
NM_000016.6(ACADM):c.1032T>C (p.Val344=) rs774315514
NM_000016.6(ACADM):c.1041T>G (p.Gly347=) rs2100453092
NM_000016.6(ACADM):c.1053C>T (p.Thr351=) rs2100453178
NM_000016.6(ACADM):c.1071A>G (p.Ala357=)
NM_000016.6(ACADM):c.1086A>C (p.Gly362=) rs2100453395
NM_000016.6(ACADM):c.108A>G (p.Gly36=) rs2100347303
NM_000016.6(ACADM):c.1095A>G (p.Ala365=) rs376993634
NM_000016.6(ACADM):c.1101G>A (p.Gln367=) rs2100453483
NM_000016.6(ACADM):c.1128T>C (p.Leu376=)
NM_000016.6(ACADM):c.1137T>C (p.Asn379=)
NM_000016.6(ACADM):c.1149A>G (p.Thr383=) rs2100453695
NM_000016.6(ACADM):c.1155T>C (p.Tyr385=) rs2100453722
NM_000016.6(ACADM):c.1161A>T (p.Val387=)
NM_000016.6(ACADM):c.1176G>A (p.Arg392=) rs2100453854
NM_000016.6(ACADM):c.118+11G>A
NM_000016.6(ACADM):c.118+17A>G
NM_000016.6(ACADM):c.119-10_119-8dup rs761432730
NM_000016.6(ACADM):c.119-16A>T rs760185676
NM_000016.6(ACADM):c.119-5C>T
NM_000016.6(ACADM):c.119-7C>A
NM_000016.6(ACADM):c.119-7C>T
NM_000016.6(ACADM):c.1194+13A>G
NM_000016.6(ACADM):c.1194+16A>G
NM_000016.6(ACADM):c.1194+17T>C
NM_000016.6(ACADM):c.1194+19T>G
NM_000016.6(ACADM):c.1195-14T>A
NM_000016.6(ACADM):c.1195-14T>C
NM_000016.6(ACADM):c.1195-15A>G
NM_000016.6(ACADM):c.1195-17T>G
NM_000016.6(ACADM):c.1195-21_1195-11del
NM_000016.6(ACADM):c.1195-7del rs2100456720
NM_000016.6(ACADM):c.1197T>C (p.Ile399=)
NM_000016.6(ACADM):c.1221A>G (p.Gln407=)
NM_000016.6(ACADM):c.1227T>G (p.Leu409=) rs2100456877
NM_000016.6(ACADM):c.1236C>G (p.Ala412=)
NM_000016.6(ACADM):c.1239T>A (p.Arg413=) rs767921195
NM_000016.6(ACADM):c.1248T>C (p.Ile416=)
NM_000016.6(ACADM):c.12G>A (p.Gly4=)
NM_000016.6(ACADM):c.12G>T (p.Gly4=) rs757845443
NM_000016.6(ACADM):c.132G>A (p.Gln44=) rs1647165709
NM_000016.6(ACADM):c.150T>A (p.Ala50=) rs1647165968
NM_000016.6(ACADM):c.153T>G (p.Thr51=) rs1444170033
NM_000016.6(ACADM):c.165T>C (p.Phe55=) rs2100362680
NM_000016.6(ACADM):c.168C>T (p.Ala56=)
NM_000016.6(ACADM):c.183C>T (p.Ile61=) rs1647166593
NM_000016.6(ACADM):c.213T>G (p.Gly71=) rs1316700534
NM_000016.6(ACADM):c.216+10T>G rs2275378
NM_000016.6(ACADM):c.216+13A>G
NM_000016.6(ACADM):c.216+19A>C
NM_000016.6(ACADM):c.217-10T>C rs1647169552
NM_000016.6(ACADM):c.217-12T>C
NM_000016.6(ACADM):c.217-12T>G
NM_000016.6(ACADM):c.217-13C>A
NM_000016.6(ACADM):c.217-16G>A
NM_000016.6(ACADM):c.217-4C>G
NM_000016.6(ACADM):c.217-8T>C
NM_000016.6(ACADM):c.225C>A (p.Val75=) rs770293389
NM_000016.6(ACADM):c.225C>T (p.Val75=)
NM_000016.6(ACADM):c.270C>T (p.His90=)
NM_000016.6(ACADM):c.279G>A (p.Glu93=) rs2100363744
NM_000016.6(ACADM):c.286+14A>G rs1570862121
NM_000016.6(ACADM):c.286+9_286+10insTTTTT rs2100363808
NM_000016.6(ACADM):c.287-12T>C
NM_000016.6(ACADM):c.287-5T>C rs990706580
NM_000016.6(ACADM):c.291T>C (p.Gly97=)
NM_000016.6(ACADM):c.30+10A>G rs759413479
NM_000016.6(ACADM):c.30+11G>A
NM_000016.6(ACADM):c.30+14C>T
NM_000016.6(ACADM):c.30+18G>A rs762704029
NM_000016.6(ACADM):c.30+18G>C
NM_000016.6(ACADM):c.30+18G>T
NM_000016.6(ACADM):c.30+20T>C rs1570843347
NM_000016.6(ACADM):c.30+8G>C
NM_000016.6(ACADM):c.30+9G>A rs770961707
NM_000016.6(ACADM):c.30+9G>C rs770961707
NM_000016.6(ACADM):c.31-12T>C
NM_000016.6(ACADM):c.31-16A>G
NM_000016.6(ACADM):c.31-17A>G
NM_000016.6(ACADM):c.31-19A>T
NM_000016.6(ACADM):c.31-20A>C
NM_000016.6(ACADM):c.31-4A>G rs2100346922
NM_000016.6(ACADM):c.31-8C>T rs1231281560
NM_000016.6(ACADM):c.321A>G (p.Leu107=) rs2100365813
NM_000016.6(ACADM):c.33C>T (p.Val11=) rs1557440940
NM_000016.6(ACADM):c.348T>C (p.Cys116=) rs2100365971
NM_000016.6(ACADM):c.366T>A (p.Ala122=)
NM_000016.6(ACADM):c.366T>C (p.Ala122=) rs1647188974
NM_000016.6(ACADM):c.387+11T>C
NM_000016.6(ACADM):c.388-19T>C
NM_000016.6(ACADM):c.388-4G>A rs2100370415
NM_000016.6(ACADM):c.396T>C (p.Pro132=) rs1647211756
NM_000016.6(ACADM):c.399T>C (p.Ile133=) rs2100370611
NM_000016.6(ACADM):c.408T>C (p.Ala136=)
NM_000016.6(ACADM):c.417T>C (p.Asp139=)
NM_000016.6(ACADM):c.438G>A (p.Leu146=) rs2100371014
NM_000016.6(ACADM):c.441G>T (p.Gly147=) rs2100371058
NM_000016.6(ACADM):c.459A>G (p.Pro153=) rs2100371183
NM_000016.6(ACADM):c.460T>C (p.Leu154=) rs2100371196
NM_000016.6(ACADM):c.468+20G>A
NM_000016.6(ACADM):c.468+7_468+8del rs1647214461
NM_000016.6(ACADM):c.469-16T>C
NM_000016.6(ACADM):c.469-19T>A
NM_000016.6(ACADM):c.469-19_469-18del
NM_000016.6(ACADM):c.469-20C>T
NM_000016.6(ACADM):c.469-6T>C
NM_000016.6(ACADM):c.469-8T>C
NM_000016.6(ACADM):c.469-9A>T
NM_000016.6(ACADM):c.471T>C (p.Ala157=) rs2100389425
NM_000016.6(ACADM):c.477T>C (p.Cys159=)
NM_000016.6(ACADM):c.480A>C (p.Val160=) rs2100389477
NM_000016.6(ACADM):c.489T>C (p.Pro163=)
NM_000016.6(ACADM):c.498C>G (p.Gly166=)
NM_000016.6(ACADM):c.498C>T (p.Gly166=)
NM_000016.6(ACADM):c.507A>G (p.Val169=)
NM_000016.6(ACADM):c.546G>A (p.Glu182=)
NM_000016.6(ACADM):c.54T>C (p.Phe18=)
NM_000016.6(ACADM):c.558T>C (p.Asn186=)
NM_000016.6(ACADM):c.579C>G (p.Thr193=) rs534575785
NM_000016.6(ACADM):c.579C>T (p.Thr193=) rs534575785
NM_000016.6(ACADM):c.599+11C>G
NM_000016.6(ACADM):c.599+12A>G rs1403181967
NM_000016.6(ACADM):c.599+16C>T
NM_000016.6(ACADM):c.599+17A>T
NM_000016.6(ACADM):c.599+19C>T
NM_000016.6(ACADM):c.599+9T>C rs752789232
NM_000016.6(ACADM):c.600-12T>G
NM_000016.6(ACADM):c.600-8T>C
NM_000016.6(ACADM):c.600-9A>G
NM_000016.6(ACADM):c.600-9A>T rs772764643
NM_000016.6(ACADM):c.615A>G (p.Ala205=) rs2100407904
NM_000016.6(ACADM):c.618T>C (p.Arg206=) rs2100407938
NM_000016.6(ACADM):c.627A>G (p.Pro209=) rs1337545473
NM_000016.6(ACADM):c.639T>C (p.Ala213=)
NM_000016.6(ACADM):c.681T>C (p.Asp227=)
NM_000016.6(ACADM):c.693T>C (p.Ile231=)
NM_000016.6(ACADM):c.6A>G (p.Ala2=) rs752190688
NM_000016.6(ACADM):c.6A>T (p.Ala2=) rs752190688
NM_000016.6(ACADM):c.702G>T (p.Gly234=)
NM_000016.6(ACADM):c.708+10T>A rs1647876114
NM_000016.6(ACADM):c.708+11_708+14del
NM_000016.6(ACADM):c.708+15A>G
NM_000016.6(ACADM):c.708+19A>G
NM_000016.6(ACADM):c.708+8A>C rs372454296
NM_000016.6(ACADM):c.708+9T>C rs991394488
NM_000016.6(ACADM):c.709-13A>C
NM_000016.6(ACADM):c.709-18T>C
NM_000016.6(ACADM):c.709-19A>G
NM_000016.6(ACADM):c.709-4T>C rs1648074655
NM_000016.6(ACADM):c.709-7T>C
NM_000016.6(ACADM):c.712T>C (p.Leu238=)
NM_000016.6(ACADM):c.729A>G (p.Arg243=) rs2100417405
NM_000016.6(ACADM):c.732T>C (p.Cys244=) rs2100417419
NM_000016.6(ACADM):c.738T>C (p.Asp246=)
NM_000016.6(ACADM):c.753C>A (p.Val251=)
NM_000016.6(ACADM):c.753C>T (p.Val251=) rs2100417528
NM_000016.6(ACADM):c.762T>C (p.Asp254=)
NM_000016.6(ACADM):c.783T>C (p.Asn261=)
NM_000016.6(ACADM):c.81C>T (p.Ala27=)
NM_000016.6(ACADM):c.849+11T>A
NM_000016.6(ACADM):c.849+12G>A
NM_000016.6(ACADM):c.849+13G>A
NM_000016.6(ACADM):c.849+13G>C
NM_000016.6(ACADM):c.849+13G>T
NM_000016.6(ACADM):c.849+14G>A
NM_000016.6(ACADM):c.849+14_849+15insCCAT
NM_000016.6(ACADM):c.849+9T>A
NM_000016.6(ACADM):c.850-10A>T
NM_000016.6(ACADM):c.850-15A>G
NM_000016.6(ACADM):c.850-16_850-8dup
NM_000016.6(ACADM):c.850-19T>C
NM_000016.6(ACADM):c.850-3_850-2insTAAATACTTAAAAT rs1553125391
NM_000016.6(ACADM):c.850-6T>C
NM_000016.6(ACADM):c.855T>C (p.Ala285=) rs2100420216
NM_000016.6(ACADM):c.876A>G (p.Ala292=)
NM_000016.6(ACADM):c.879A>G (p.Gln293=) rs1302160137
NM_000016.6(ACADM):c.900C>G (p.Thr300=)
NM_000016.6(ACADM):c.903G>A (p.Lys301=) rs2100420394
NM_000016.6(ACADM):c.918G>A (p.Arg306=)
NM_000016.6(ACADM):c.936A>G (p.Leu312=)
NM_000016.6(ACADM):c.945+11T>G
NM_000016.6(ACADM):c.945+13C>T
NM_000016.6(ACADM):c.945+18T>C rs2100420600
NM_000016.6(ACADM):c.945+18dup
NM_000016.6(ACADM):c.945+20C>G
NM_000016.6(ACADM):c.945+8T>G rs1570893452
NM_000016.6(ACADM):c.946-10T>C
NM_000016.6(ACADM):c.946-13T>C
NM_000016.6(ACADM):c.946-14C>A
NM_000016.6(ACADM):c.946-14_946-12del
NM_000016.6(ACADM):c.946-20T>G
NM_000016.6(ACADM):c.946-4C>A rs752961658
NM_000016.6(ACADM):c.946-6T>C
NM_000016.6(ACADM):c.946-9T>C rs1057524311
NM_000016.6(ACADM):c.954A>G (p.Ala318=)
NM_000016.6(ACADM):c.972T>A (p.Ala324=)
NM_000016.6(ACADM):c.987A>G (p.Lys329=)
NM_000016.6(ACADM):c.990T>A (p.Val330=) rs2100452828
NM_000016.6(ACADM):c.99A>G (p.Pro33=) rs2100347227

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