ClinVar Miner

List of variants studied for Deficiency of isobutyryl-CoA dehydrogenase by Invitae

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ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_014384.3(ACAD8):c.841+7T>C rs77368661 0.04943
NM_014384.3(ACAD8):c.1195+12C>T rs75333832 0.04799
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro) rs35181923 0.01086
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_014384.3(ACAD8):c.211-4A>G rs517424 0.00927
NM_014384.3(ACAD8):c.801C>T (p.Leu267=) rs36115758 0.00717
NM_014384.3(ACAD8):c.842-8C>G rs201188279 0.00227
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_014384.3(ACAD8):c.211-20C>T rs200508056 0.00089
NM_014384.3(ACAD8):c.110-17T>C rs372435194 0.00054
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_014384.3(ACAD8):c.380+17G>T rs201079276 0.00025
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys) rs368653287 0.00016
NM_014384.3(ACAD8):c.939+11C>T rs372904463 0.00016
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile) rs374317179 0.00014
NM_014384.3(ACAD8):c.178A>G (p.Met60Val) rs374985215 0.00012
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile) rs759877257 0.00012
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=) rs374692738 0.00011
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln) rs775062752 0.00011
NM_014384.3(ACAD8):c.444G>T (p.Pro148=) rs572820646 0.00010
NM_014384.3(ACAD8):c.567+12C>T rs375812492 0.00010
NM_014384.3(ACAD8):c.110-9T>C rs371550147 0.00009
NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln) rs749474432 0.00009
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala) rs186756646 0.00009
NM_014384.3(ACAD8):c.567+8C>T rs574233188 0.00009
NM_014384.3(ACAD8):c.841+9C>T rs777635296 0.00008
NM_014384.3(ACAD8):c.842-18G>A rs578153873 0.00008
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr) rs121908418 0.00007
NM_014384.3(ACAD8):c.984C>T (p.Ala328=) rs766640729 0.00007
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg) rs367996531 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser) rs200170162 0.00006
NM_014384.3(ACAD8):c.846C>G (p.Ser282=) rs200330956 0.00006
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr) rs751260935 0.00006
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) rs143408080 0.00005
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu) rs374584216 0.00005
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546 0.00004
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr) rs200234092 0.00004
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_014384.3(ACAD8):c.615C>T (p.Cys205=) rs200275294 0.00004
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr) rs577976129 0.00004
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 0.00003
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter) rs746960051 0.00003
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn) rs150537378 0.00002
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser) rs779459988 0.00002
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg) rs371033488 0.00002
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu) rs1433228446 0.00002
NM_014384.3(ACAD8):c.491-6C>T rs772337149 0.00002
NM_014384.3(ACAD8):c.841+6A>C rs199738913 0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_014384.3(ACAD8):c.1000C>T (p.Arg334Cys) rs778823613 0.00001
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr) rs767613745 0.00001
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val) rs1330918776 0.00001
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser) rs773472208 0.00001
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro) rs773978651 0.00001
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr) rs767041100 0.00001
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg) rs763906092 0.00001
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser) rs1939586683 0.00001
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr) rs751633406 0.00001
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly) rs1288285713 0.00001
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg) rs367999938 0.00001
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr) rs1939759468 0.00001
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val) rs151125742 0.00001
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala) rs748422726 0.00001
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val) rs780609527 0.00001
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val) rs142790411 0.00001
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe) rs770663870 0.00001
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp) rs1278727402 0.00001
NM_014384.3(ACAD8):c.948A>G (p.Gln316=) rs148005336 0.00001
NM_014384.3(ACAD8):c.964A>G (p.Met322Val) rs1167657404 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln) rs752153225 0.00001
NC_000011.9:g.(?_133778964)_(134134854_?)del
NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp) rs377629003
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val) rs2136083488
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg) rs995149464
NM_014384.3(ACAD8):c.109+19G>T
NM_014384.3(ACAD8):c.1092+1G>A rs572619478
NM_014384.3(ACAD8):c.1092+1G>C rs572619478
NM_014384.3(ACAD8):c.1092+3_1092+6del rs780925587
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
NM_014384.3(ACAD8):c.110-6C>T rs559628768
NM_014384.3(ACAD8):c.1119C>T (p.His373=)
NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)
NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly) rs1218106884
NM_014384.3(ACAD8):c.1195+10G>A
NM_014384.3(ACAD8):c.1195+1G>A rs1555067461
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA rs2136084544
NM_014384.3(ACAD8):c.1196-4_1196-2del rs1940101302
NM_014384.3(ACAD8):c.1196-9C>G
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile) rs2136075017
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
NM_014384.3(ACAD8):c.133C>T (p.Gln45Ter) rs1591505809
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
NM_014384.3(ACAD8):c.210+7G>A
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly) rs377629003
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) rs1591506881
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.3(ACAD8):c.27C>T (p.Phe9=) rs2136068044
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro) rs2136076309
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val) rs773403936
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala) rs935057058
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter) rs768701760
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys) rs1353919966
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
NM_014384.3(ACAD8):c.380+7G>T rs1335335796
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg) rs2136078898
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg) rs1301535598
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp) rs774591276
NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) rs1315587870
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe) rs1274417206
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn) rs2136082301
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala) rs1246888184
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
NM_014384.3(ACAD8):c.804T>C (p.Ile268=) rs757519037
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys) rs371156848
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
NM_014384.3(ACAD8):c.842-19C>T
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp) rs1939865617
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
NM_014384.3(ACAD8):c.867C>G (p.His289Gln) rs121908421
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro) rs121908422
NM_014384.3(ACAD8):c.909G>A (p.Lys303=) rs2136082667
NM_014384.3(ACAD8):c.939+1G>T
NM_014384.3(ACAD8):c.940-13C>G
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg) rs577976129
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)

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