ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP
NC_000001.10:g.(?_76211471)_(76211619_?)dup
NC_000001.11:g.(?_75541435)_(76074884_?)del
NC_000001.11:g.(?_75724768)_(75724837_?)del
NC_000001.11:g.(?_75724768)_(75762783_?)del
NC_000001.11:g.(?_75724778)_(75724827_?)del
NC_000001.11:g.(?_75724778)_(75750556_?)del
NC_000001.11:g.(?_75724778)_(75762773_?)del
NC_000001.11:g.(?_75761102)_(75762783_?)del
NC_000001.11:g.(?_75761112)_(75762773_?)del
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.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) rs150710061
NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.1125A>G (p.Ile375Met) rs201809827
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) rs748110745
NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.5(ACADM):c.1190A>C (p.Tyr397Ser) rs1553127216
NM_000016.5(ACADM):c.1194+3A>G rs369945009
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.1238G>A (p.Arg413His) rs1337929727
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
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.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.217-1G>A rs1570861829
NM_000016.5(ACADM):c.233T>C (p.Ile78Thr) rs398123074
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.253G>T (p.Gly85Cys) rs398123075
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.5(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) rs875989863
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.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
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.423_425del (p.Lys144del) rs886042087
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>A (p.Met149Ile) rs121434277
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.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
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.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.599+3A>G rs375921211
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.600-6T>C rs771343450
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
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.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.666C>A (p.Phe222Leu) rs139457557
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.67C>T (p.Gln23Ter) rs1570851702
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.717C>G (p.Asn239Lys) rs1348176225
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
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.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.86G>T (p.Arg29Leu)
NM_000016.5(ACADM):c.880_881AG[1] (p.Arg294fs) rs796051901
NM_000016.5(ACADM):c.900C>T (p.Thr300=) rs17097429
NM_000016.5(ACADM):c.927del (p.Phe309fs) rs1557458562
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.946-6T>G rs765793260
NM_000016.5(ACADM):c.950A>T (p.Gln317Leu) rs1557466604
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.989_1010del (p.Val330fs) rs1553127172
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000016.6(ACADM):c.*5dup (p.Ter422=) rs3841786
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter)
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro)
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
NM_000016.6(ACADM):c.118+10C>T rs202218503
NM_000016.6(ACADM):c.119-1G>C
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val)
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.1239T>A (p.Arg413=) rs767921195
NM_000016.6(ACADM):c.126C>T (p.Thr42=) rs765625793
NM_000016.6(ACADM):c.195A>C (p.Ala65=) rs771649282
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.21A>G (p.Arg7=) rs906559903
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu)
NM_000016.6(ACADM):c.229C>T (p.Leu77=) rs749859620
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
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.333_345del (p.Glu111fs)
NM_000016.6(ACADM):c.33C>T (p.Val11=) rs1557440940
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
NM_000016.6(ACADM):c.426G>A (p.Lys142=) rs565131848
NM_000016.6(ACADM):c.468+2T>G
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
NM_000016.6(ACADM):c.474T>C (p.Tyr158=) rs757198475
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly)
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
NM_000016.6(ACADM):c.555T>G (p.Ile185Met)
NM_000016.6(ACADM):c.576A>G (p.Ile192Met)
NM_000016.6(ACADM):c.579C>T (p.Thr193=) rs534575785
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser)
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter)
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
NM_000016.6(ACADM):c.686del (p.Pro229fs)
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)
NM_000016.6(ACADM):c.785T>A (p.Val262Asp)
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) rs1557457623
NM_000016.6(ACADM):c.865G>T (p.Val289Phe)
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
NM_000016.6(ACADM):c.945+9A>G rs768654898
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
NM_000016.6(ACADM):c.982A>G (p.Met328Val)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_001286042.1(ACADM):c.10+3600del rs1325949559
NM_001286044.1(ACADM):c.-100+1877TAT[2] rs1570866192
NM_001286044.1(ACADM):c.-100+1906del rs886042087
NM_001286044.1(ACADM):c.-100+670_-100+671delinsCA rs1553123069
NM_001286044.1(ACADM):c.-100+674dup rs1553123071
NM_001286044.1(ACADM):c.-151_-149AGA[1] rs1553122972
NM_001286044.1(ACADM):c.-221del rs1319192670

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