ClinVar Miner

List of variants reported as uncertain significance for Glutaric aciduria, type 1

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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397 0.00170
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943 0.00131
NM_000159.4(GCDH):c.-35G>A rs545594924 0.00105
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000159.4(GCDH):c.*101G>A rs140251161 0.00067
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000159.4(GCDH):c.*70G>A rs760840900 0.00025
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539 0.00023
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn) rs761135089 0.00017
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000159.4(GCDH):c.*340G>A rs190174770 0.00014
NM_000159.4(GCDH):c.1244-15A>G rs201407990 0.00014
NM_000159.4(GCDH):c.-4G>C rs371464666 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000159.4(GCDH):c.1299G>A (p.Ala433=) rs150271870 0.00008
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe) rs371654188 0.00007
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000159.4(GCDH):c.-49G>A rs886054240 0.00005
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000159.4(GCDH):c.*307G>A rs533356351 0.00004
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457 0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=) rs138133019 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.38G>A (p.Arg13His) rs550100640 0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=) rs1438245420 0.00003
NM_000159.4(GCDH):c.893C>T (p.Ala298Val) rs764993096 0.00003
NM_000159.4(GCDH):c.*96G>T rs376487828 0.00002
NM_000159.4(GCDH):c.1083-10C>T rs756372984 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg) rs771126053 0.00002
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile) rs766884691 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 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.727C>T (p.Arg243Trp) rs549254182 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000159.4(GCDH):c.*201A>C rs1356787323 0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) rs752234195 0.00001
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000159.4(GCDH):c.1088C>T (p.Ala363Val) rs1278213620 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg) rs780408127 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 0.00001
NM_000159.4(GCDH):c.325A>G (p.Thr109Ala) rs1419527696 0.00001
NM_000159.4(GCDH):c.365C>T (p.Ala122Val) rs766325846 0.00001
NM_000159.4(GCDH):c.366C>G (p.Ala122=) rs751364711 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.419C>T (p.Ala140Val) rs762052524 0.00001
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr) rs759415410 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu) rs769520999 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.862G>A (p.Gly288Ser) rs774157793 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NC_000019.9:g.(?_10828919)_(13482613_?)dup
NM_000159.4(GCDH):c.*182AGA[1] rs1555752085
NM_000159.4(GCDH):c.*331T>C rs869025297
NM_000159.4(GCDH):c.*332C>A rs869025298
NM_000159.4(GCDH):c.*61C>T rs368816047
NM_000159.4(GCDH):c.-34-11C>A rs367715601
NM_000159.4(GCDH):c.-35+9G>A rs886054241
NM_000159.4(GCDH):c.-47G>A rs952257144
NM_000159.4(GCDH):c.-50C>T rs778329051
NM_000159.4(GCDH):c.-69T>C rs950955521
NM_000159.4(GCDH):c.1002G>C (p.Lys334Asn)
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe) rs1599617735
NM_000159.4(GCDH):c.1021A>T (p.Thr341Ser)
NM_000159.4(GCDH):c.1033C>G (p.Leu345Val) rs1970708854
NM_000159.4(GCDH):c.1060_1065del (p.Gly354_Arg355del)
NM_000159.4(GCDH):c.1085C>T (p.Ala362Val)
NM_000159.4(GCDH):c.1097T>C (p.Met366Thr)
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile) rs1599618698
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.1131A>C (p.Lys377Asn) rs139241235
NM_000159.4(GCDH):c.1134C>T (p.Ala378=) rs2145954932
NM_000159.4(GCDH):c.1141A>G (p.Ile381Val)
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.116A>C (p.Gln39Pro) rs1599606857
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.1274G>A (p.Gly425Glu) rs2145959018
NM_000159.4(GCDH):c.1287G>A (p.Thr429=) rs141819282
NM_000159.4(GCDH):c.1314dup (p.Ter439ValextTer?)
NM_000159.4(GCDH):c.133C>A (p.Arg45Ser) rs1422889400
NM_000159.4(GCDH):c.193A>C (p.Ile65Leu) rs1275589130
NM_000159.4(GCDH):c.196C>T (p.Leu66Phe) rs762640205
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000159.4(GCDH):c.215G>A (p.Arg72His) rs759076157
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro) rs748185335
NM_000159.4(GCDH):c.227A>G (p.Gln76Arg)
NM_000159.4(GCDH):c.232A>G (p.Arg78Gly)
NM_000159.4(GCDH):c.240G>C (p.Met80Ile) rs1970567585
NM_000159.4(GCDH):c.271+17G>A
NM_000159.4(GCDH):c.271+19G>A
NM_000159.4(GCDH):c.278A>G (p.His93Arg) rs398123192
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro) rs1417742838
NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)
NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del) rs1555749893
NM_000159.4(GCDH):c.383G>T (p.Arg128Leu) rs755586631
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly) rs372429120
NM_000159.4(GCDH):c.395G>C (p.Arg132Pro)
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.401A>T (p.Asp134Val) rs1970604130
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.427G>A (p.Val143Ile) rs1555749918
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.49C>G (p.Leu17Val)
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.539C>T (p.Thr180Ile)
NM_000159.4(GCDH):c.548A>G (p.Asn183Ser)
NM_000159.4(GCDH):c.550A>G (p.Ser184Gly) rs1555750471
NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.576_577delinsAC (p.Thr193Pro)
NM_000159.4(GCDH):c.596C>T (p.Ser199Leu) rs1970669938
NM_000159.4(GCDH):c.614C>A (p.Thr205Asn)
NM_000159.4(GCDH):c.636-2dup rs762345287
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) rs1468636851
NM_000159.4(GCDH):c.643A>G (p.Asn215Asp) rs1970674860
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.688G>A (p.Asp230Asn) rs575325364
NM_000159.4(GCDH):c.691G>A (p.Gly231Ser) rs1970676051
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.715G>A (p.Glu239Lys) rs1970677215
NM_000159.4(GCDH):c.728G>A (p.Arg243Gln)
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser) rs1555750589
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del) rs768065370
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe) rs1599615059
NM_000159.4(GCDH):c.759G>A (p.Lys253=) rs886054242
NM_000159.4(GCDH):c.764C>G (p.Ser255Trp)
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) rs777494547
NM_000159.4(GCDH):c.798G>A (p.Met266Ile) rs1555750632
NM_000159.4(GCDH):c.80C>T (p.Ala27Val)
NM_000159.4(GCDH):c.851G>C (p.Gly284Ala)
NM_000159.4(GCDH):c.860T>C (p.Phe287Ser)
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)
NM_000159.4(GCDH):c.932C>G (p.Thr311Arg) rs1970695857
NM_000159.4(GCDH):c.949C>T (p.Leu317Phe) rs1970696752
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000159.4(GCDH):c.957G>A (p.Arg319=)
NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp)
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972

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