ClinVar Miner

List of variants in gene GCDH reported as likely pathogenic for glutaryl-CoA dehydrogenase deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) rs1025558859 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp) rs372429120 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln) rs746220312 0.00002
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) rs778153326 0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs) rs1970722328 0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs) rs1377352983 0.00001
NM_000159.4(GCDH):c.278A>T (p.His93Leu) rs398123192 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser) rs767351827 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.636-1G>A rs398123195 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) rs754312389 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu) rs755054282 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972 0.00001
NC_000019.9:g.(?_13004287)_(13004477_?)del
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) rs869025299
NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)
NM_000159.4(GCDH):c.1065delinsATTGA (p.Lys357fs)
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter) rs1970710230
NM_000159.4(GCDH):c.1082+1G>A
NM_000159.4(GCDH):c.1082+1G>T rs1555751109
NM_000159.4(GCDH):c.1082+2T>C rs2145954110
NM_000159.4(GCDH):c.1083-2A>C rs2145954766
NM_000159.4(GCDH):c.1093G>T (p.Glu365Ter)
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) rs1568429137
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr) rs1442597198
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr) rs772654647
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) rs752127949
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn) rs1970720537
NM_000159.4(GCDH):c.1167_1168insT (p.Gly390fs) rs1568429257
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser) rs2145955095
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)
NM_000159.4(GCDH):c.1199T>C (p.Val400Ala) rs2145955176
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) rs1599619080
NM_000159.4(GCDH):c.1209C>G (p.His403Gln) rs747746632
NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys) rs1599619180
NM_000159.4(GCDH):c.1228G>A (p.Val410Met) rs760155287
NM_000159.4(GCDH):c.1233del (p.Asn411fs) rs2145955299
NM_000159.4(GCDH):c.1236del (p.Tyr413fs)
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1243+1G>C
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro) rs1568424857
NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly) rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His) rs1970568682
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.272-2A>G
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) rs771602677
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter) rs976647697
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.334+1G>A
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) rs758137643
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) rs1555749853
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys) rs1970602621
NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) rs768836114
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.397dup (p.Val133fs)
NM_000159.4(GCDH):c.398T>G (p.Val133Gly) rs772549903
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys) rs747370741
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg) rs2145944277
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.446T>C (p.Met149Thr) rs2145944429
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.505+1_505+8del rs1057516855
NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg) rs2145950047
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_000159.4(GCDH):c.535C>G (p.Leu179Val) rs201714645
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)
NM_000159.4(GCDH):c.541G>A (p.Glu181Lys) rs745852738
NM_000159.4(GCDH):c.552del (p.Ser184fs)
NM_000159.4(GCDH):c.565dup (p.Ser189fs)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.572T>G (p.Met191Arg)
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter) rs1970671544
NM_000159.4(GCDH):c.636-3_639del rs1555750535
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
NM_000159.4(GCDH):c.644delinsCTCG (p.Asn215delinsThrArg)
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs) rs1555750542
NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr) rs1970675055
NM_000159.4(GCDH):c.659A>T (p.Asp220Val)
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) rs1057516899
NM_000159.4(GCDH):c.674G>C (p.Trp225Ser) rs1568427678
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu) rs121434373
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe) rs1970675873
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln) rs1203022386
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) rs1555750580
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter) rs1008834111
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) rs367699815
NM_000159.4(GCDH):c.787A>G (p.Met263Val)
NM_000159.4(GCDH):c.788T>C (p.Met263Thr)
NM_000159.4(GCDH):c.852+1G>A rs1367214521
NM_000159.4(GCDH):c.852+1del
NM_000159.4(GCDH):c.853-1G>A
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.856C>T (p.Pro286Ser) rs786205861
NM_000159.4(GCDH):c.870_871del (p.Asn291fs)
NM_000159.4(GCDH):c.873del (p.Asn291fs) rs1057517407
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu) rs775606471
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter) rs139192015
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter) rs1970694961
NM_000159.4(GCDH):c.932dup (p.Ala312fs) rs1970695925
NM_000159.4(GCDH):c.957-1G>T
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter) rs1970707032

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