ClinVar Miner

List of variants in gene TPP1 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) rs121908197
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) rs121908206
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) rs1564854729
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys)
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) rs121908198
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579
NM_000391.4(TPP1):c.119G>A (p.Arg40His)
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821
NM_000391.4(TPP1):c.1208T>C (p.Ile403Thr) rs1564854446
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020
NM_000391.4(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp)
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1266+8T>C rs752269166
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000391.4(TPP1):c.127C>G (p.Pro43Ala) rs1314595290
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) rs121908201
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1426-10A>T rs200965587
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg) rs121908208
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) rs748533410
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) rs751645191
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) rs201126448
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg) rs773707856
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu) rs773707856
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>C rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1552-1G>A rs1057516511
NM_000391.4(TPP1):c.1552-4del
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)
NM_000391.4(TPP1):c.1559G>A (p.Arg520His)
NM_000391.4(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.4(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys)
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser) rs121908210
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs)
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser)
NM_000391.4(TPP1):c.18-10G>T rs778206032
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.4(TPP1):c.182_183TC[1] (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.202G>A (p.Val68Met)
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly)
NM_000391.4(TPP1):c.219T>C (p.Ser73=) rs1456089848
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098
NM_000391.4(TPP1):c.229+8T>C rs1263525920
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.295G>C (p.Val99Leu)
NM_000391.4(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.381-4C>G rs529421892
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) rs1554902043
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.4(TPP1):c.554G>A (p.Arg185His) rs773455971
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile)
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys) rs1554901957
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr)
NM_000391.4(TPP1):c.669C>T (p.Asn223=) rs1554901936
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.687+6C>T rs768924191
NM_000391.4(TPP1):c.688-4A>G rs370683758
NM_000391.4(TPP1):c.688-7T>A rs375262484
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.734G>A (p.Arg245His)
NM_000391.4(TPP1):c.746G>T (p.Gly249Val)
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser)
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys)
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031
NM_000391.4(TPP1):c.782T>C (p.Val261Ala)
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) rs760252179
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr)
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) rs121908196
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys)
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.4(TPP1):c.956A>G (p.His319Arg)
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650

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