ClinVar Miner

List of variants studied for medium chain acyl-CoA dehydrogenase deficiency by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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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.1091T>C (p.Ile364Thr) rs150710061 0.00031
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.388-3T>G rs764942250 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.388-14A>G rs372525651 0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs) rs777998984 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 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.233T>C (p.Ile78Thr) rs398123074 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 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.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys) rs1227800781 0.00001
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu) rs150310121 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.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.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.609A>C (p.Leu203Phe) rs751829413 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 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.709-1G>A rs941714381 0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys) rs1348176225 0.00001
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter) rs1462279583 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.85C>T (p.Arg29Ter) rs745793409 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000016.6(ACADM):c.946-2A>C rs758753966 0.00001
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.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.117del (p.Phe39fs)
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.6(ACADM):c.1194+2T>G
NM_000016.6(ACADM):c.1195-2A>C
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) rs1361089796
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)
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.165del (p.Phe55fs) rs1319192670
NM_000016.6(ACADM):c.205A>T (p.Lys69Ter)
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.222del (p.Val75fs)
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
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_271dup (p.Ile91fs)
NM_000016.6(ACADM):c.287-1G>A
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.311A>G (p.Asp104Gly) rs1647187729
NM_000016.6(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.355dup (p.Val119fs) rs1553123071
NM_000016.6(ACADM):c.383dup (p.Leu128fs) rs1647189225
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.397ATT[2] (p.Ile135del) rs1570866192
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
NM_000016.6(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.6(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.468+1G>A
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.526G>A (p.Ala176Thr) rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr) rs1647480996
NM_000016.6(ACADM):c.567del (p.Met190fs)
NM_000016.6(ACADM):c.572G>A (p.Trp191Ter)
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.589A>G (p.Lys197Glu) rs1199770829
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)
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.67C>T (p.Gln23Ter) rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.709-2A>G
NM_000016.6(ACADM):c.712_715del (p.Leu238fs)
NM_000016.6(ACADM):c.778_782del (p.Glu260fs) rs2100417619
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) rs1557457623
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.820A>G (p.Met274Val)
NM_000016.6(ACADM):c.830_831dup (p.Asp278fs)
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.901A>T (p.Lys301Ter)
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000016.6(ACADM):c.927del (p.Phe309fs) rs1557458562
NM_000016.6(ACADM):c.945+1G>A
NM_000016.6(ACADM):c.946-6T>G rs765793260
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.982A>G (p.Met328Val) rs1648825926
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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