ClinVar Miner

List of variants in gene GCDH reported as uncertain significance

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Total variants: 151
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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.271+3G>A rs75430014 0.00167
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943 0.00131
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
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.510G>C (p.Lys170Asn) rs200785120 0.00010
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.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.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.876C>T (p.Asn292=) rs1438245420 0.00003
NM_000159.4(GCDH):c.893C>T (p.Ala298Val) rs764993096 0.00003
NM_000159.4(GCDH):c.1083-10C>T rs756372984 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.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.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.356C>T (p.Ser119Leu) rs886043840 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.833C>T (p.Pro278Leu) rs755054282 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
NM_000159.4(GCDH):c.957-5T>C rs769694211 0.00001
NM_000159.4(GCDH):c.1000AAG[1] (p.Lys335del)
NM_000159.4(GCDH):c.1002G>C (p.Lys334Asn)
NM_000159.4(GCDH):c.1003A>C (p.Lys335Gln)
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.1036G>A (p.Gly346Ser)
NM_000159.4(GCDH):c.1039C>T (p.Leu347Phe)
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.1120A>G (p.Asn374Asp) rs398123189
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.1157G>C (p.Arg386Pro) rs398123190
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.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.240G>C (p.Met80Ile) rs1970567585
NM_000159.4(GCDH):c.242C>T (p.Pro81Leu)
NM_000159.4(GCDH):c.260A>G (p.Asn87Ser)
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.280C>T (p.Arg94Trp) rs771602677
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)
NM_000159.4(GCDH):c.296A>G (p.Glu99Gly) rs1294124984
NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)
NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)
NM_000159.4(GCDH):c.319G>A (p.Gly107Ser)
NM_000159.4(GCDH):c.328A>G (p.Ile110Val)
NM_000159.4(GCDH):c.380C>T (p.Ala127Val)
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.439C>T (p.Leu147Phe)
NM_000159.4(GCDH):c.448C>T (p.His150Tyr)
NM_000159.4(GCDH):c.451C>T (p.Pro151Ser) rs1223762032
NM_000159.4(GCDH):c.472G>A (p.Glu158Lys)
NM_000159.4(GCDH):c.517C>T (p.Leu173Phe) rs398123193
NM_000159.4(GCDH):c.524G>A (p.Gly175Asp) rs1555750450
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.531C>A (p.Phe177Leu)
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.557G>C (p.Ser186Thr) rs763739291
NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.571A>G (p.Met191Val) rs1568427483
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.614C>T (p.Thr205Ile)
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.683G>T (p.Cys228Phe) rs1970675873
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.692G>C (p.Gly231Ala)
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.740C>G (p.Ala247Gly)
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe) rs1599615059
NM_000159.4(GCDH):c.749T>C (p.Ile250Thr) rs2145951275
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.797T>C (p.Met266Thr) rs771650894
NM_000159.4(GCDH):c.798G>A (p.Met266Ile) rs1555750632
NM_000159.4(GCDH):c.851G>C (p.Gly284Ala)
NM_000159.4(GCDH):c.860T>C (p.Phe287Ser)
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.911C>G (p.Ala304Gly) rs794727951
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.956+3G>A
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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