ClinVar Miner

List of variants reported as pathogenic for Glutaric aciduria, type 1

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ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
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.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
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.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457 0.00004
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp) rs368357056 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.1244-2A>C rs199999619 0.00003
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr) rs776758971 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.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) rs576948027 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn) rs375357230 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.1015A>G (p.Met339Val) rs752234195 0.00001
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr) rs1257292639 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1064G>A (p.Arg355His) rs748275416 0.00001
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg) rs1348974766 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 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.127+1G>A rs1473339589 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly) rs758646992 0.00001
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) rs768532620 0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs) rs1057517088 0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 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.382C>T (p.Arg128Ter) rs752334462 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.463T>C (p.Tyr155His) rs1482995062 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.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) rs751583656 0.00001
NM_000159.4(GCDH):c.796A>G (p.Met266Val) rs745357523 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.857C>T (p.Pro286Leu) rs1254396827 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp) rs1864390545 0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) rs1260580183 0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972 0.00001
NC_000019.9:g.(?_12757434)_(13617038_?)del
NC_000019.9:g.(?_12996012)_(13004373_?)del
NC_000019.9:g.(?_13001426)_(13004353_?)del
NC_000019.9:g.(?_13001933)_(13003258_?)del
NC_000019.9:g.(?_13001933)_(13004477_?)del
NC_000019.9:g.(?_13004287)_(13008687_?)del
NM_000159.4(GCDH):c.1000A>T (p.Lys334Ter)
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) rs869025299
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter) rs1555751089
NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)
NM_000159.4(GCDH):c.1064_1065insATTG (p.Lys357fs) rs1568428779
NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)
NM_000159.4(GCDH):c.1082+2T>C rs2145954110
NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)
NM_000159.4(GCDH):c.109_110del (p.Gln37fs) rs1970555406
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr) rs1970718775
NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly) rs771924230
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1116del (p.Asn373fs) rs2145954876
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.1125_1126del (p.Cys375fs)
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val) rs1970719648
NM_000159.4(GCDH):c.1138del (p.Asp380fs)
NM_000159.4(GCDH):c.1144_1145del (p.Ala382fs)
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln) rs398123190
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg) rs372983141
NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)
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.1176T>G (p.Asn392Lys) rs2145955099
NM_000159.4(GCDH):c.1182T>G (p.Ile394Met) rs1599618968
NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)
NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) rs1599619080
NM_000159.4(GCDH):c.1208A>G (p.His403Arg)
NM_000159.4(GCDH):c.1208_1243+718del
NM_000159.4(GCDH):c.120_123del (p.Ala41fs)
NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly) rs1432619357
NM_000159.4(GCDH):c.1228G>A (p.Val410Met) rs760155287
NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter) rs147611168
NM_000159.4(GCDH):c.1243+1G>T rs1970723970
NM_000159.4(GCDH):c.1244-1G>A rs1160507620
NM_000159.4(GCDH):c.1244-2A>G rs199999619
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile) rs121434368
NM_000159.4(GCDH):c.1249C>G (p.His417Asp) rs1405935475
NM_000159.4(GCDH):c.127+1G>T
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu) rs933624223
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) rs1970564107
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter) rs1970564149
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys) rs1970564149
NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) rs1555749239
NM_000159.4(GCDH):c.215G>T (p.Arg72Leu)
NM_000159.4(GCDH):c.219del (p.Tyr74fs) rs1057516521
NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter) rs754378464
NM_000159.4(GCDH):c.251del (p.Leu84fs)
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>T (p.Arg88Cys) 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.275T>G (p.Phe92Cys) rs2145940591
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.296A>G (p.Glu99Gly) rs1294124984
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.304del (p.Glu102fs)
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
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.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)
NM_000159.4(GCDH):c.367T>C (p.Tyr123His)
NM_000159.4(GCDH):c.386A>C (p.Glu129Ala) rs1568425945
NM_000159.4(GCDH):c.389T>C (p.Leu130Pro) rs1254101861
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys) rs1970604182
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.428_957-39del
NM_000159.4(GCDH):c.431A>C (p.Gln144Pro) rs878853154
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.445A>G (p.Met149Val)
NM_000159.4(GCDH):c.446T>C (p.Met149Thr) rs2145944429
NM_000159.4(GCDH):c.456C>G (p.Ile152Met) rs878853153
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.467G>T (p.Gly156Val) rs1034155331
NM_000159.4(GCDH):c.478C>T (p.Gln160Ter) rs1970608600
NM_000159.4(GCDH):c.479_481del (p.Gln160del)
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp) rs1173575355
NM_000159.4(GCDH):c.505+1G>A rs968628450
NM_000159.4(GCDH):c.511G>T (p.Gly171Trp) rs2145950047
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.524del (p.Gly175fs)
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.541G>C (p.Glu181Gln) rs745852738
NM_000159.4(GCDH):c.542_543del (p.Glu181fs) rs2145950197
NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)
NM_000159.4(GCDH):c.583G>A (p.Ala195Thr) rs2145950460
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) rs1468636851
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr) rs1970675055
NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)
NM_000159.4(GCDH):c.661_662del (p.Leu221fs) rs2145950918
NM_000159.4(GCDH):c.671T>G (p.Val224Gly) rs1970675584
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
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>C (p.Arg234Pro) rs1203022386
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu) rs747920711
NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)
NM_000159.4(GCDH):c.731del (p.Gly244fs) rs878853244
NM_000159.4(GCDH):c.736_737del (p.Ser246fs) rs751287220
NM_000159.4(GCDH):c.747del (p.Ile250fs)
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter) rs1008834111
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)
NM_000159.4(GCDH):c.775T>C (p.Ser259Pro) rs2145951375
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) rs367699815
NM_000159.4(GCDH):c.795_796insCTATGATCATC (p.Met266delinsLeuTer) rs869025300
NM_000159.4(GCDH):c.797T>C (p.Met266Thr) rs771650894
NM_000159.4(GCDH):c.79del (p.Ala27fs) rs1057516939
NM_000159.4(GCDH):c.803G>T (p.Gly268Val) rs765723076
NM_000159.4(GCDH):c.831_834dup (p.Gly279fs)
NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro) rs1970682343
NM_000159.4(GCDH):c.852+1del
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.860dup (p.Gly288fs) rs1970693382
NM_000159.4(GCDH):c.878C>T (p.Ala293Val)
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000159.4(GCDH):c.883T>C (p.Tyr295His) rs121434366
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter) rs139192015
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter) rs1599616676
NM_000159.4(GCDH):c.8dup (p.Arg4fs) rs2145938175
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.905T>C (p.Leu302Pro) rs2145952877
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_000159.4(GCDH):c.91G>T (p.Glu31Ter) rs1374072630
NM_000159.4(GCDH):c.920dup (p.Cys308fs)
NM_000159.4(GCDH):c.932dup (p.Ala312fs) rs1970695925
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter) rs1970696255
NM_000159.4(GCDH):c.957-1G>C
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)
NM_000159.4(GCDH):c.998A>G (p.Gln333Arg) rs2145953853

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