ClinVar Miner

List of variants in gene TPP1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr)
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu) rs984125804
NM_000391.4(TPP1):c.100G>A (p.Gly34Ser)
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.1020C>G (p.Val340=) rs915667605
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.1034T>C (p.Met345Thr)
NM_000391.4(TPP1):c.1034T>G (p.Met345Arg)
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.1049G>A (p.Arg350Gln) rs199866669
NM_000391.4(TPP1):c.1049G>C (p.Arg350Pro)
NM_000391.4(TPP1):c.1065C>G (p.Leu355=) rs777261002
NM_000391.4(TPP1):c.1068C>T (p.Phe356=) rs769297657
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro)
NM_000391.4(TPP1):c.1075+2T>C
NM_000391.4(TPP1):c.1075+5C>T
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs)
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.1099T>C (p.Ser367Pro)
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) rs751321300
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys) rs368914445
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1131C>G (p.Thr377=) rs1444283440
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.4(TPP1):c.1140C>T (p.Ala380=) rs1589947977
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys)
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1145+3A>G
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr) rs761448855
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.1181A>T (p.Gln394Leu)
NM_000391.4(TPP1):c.1186C>G (p.Pro396Ala)
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579
NM_000391.4(TPP1):c.119G>A (p.Arg40His) rs549309216
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu)
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.1222_1224del (p.Ser408del)
NM_000391.4(TPP1):c.1228G>A (p.Gly410Ser)
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) rs768795654
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.124G>T (p.Asp42Tyr)
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) rs143584882
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+4C>T
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.1267-2A>G
NM_000391.4(TPP1):c.1267-9G>C rs1166231114
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.1281G>A (p.Thr427=) rs577520250
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.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr) rs1589947644
NM_000391.4(TPP1):c.135A>G (p.Glu45=) rs746004484
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp)
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807
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.1397_1408delinsGACACCGA (p.Val466fs)
NM_000391.4(TPP1):c.1416C>T (p.Ser472=) rs773086052
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1426-10A>T rs200965587
NM_000391.4(TPP1):c.1426-1G>A
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu)
NM_000391.4(TPP1):c.1449G>A (p.Gly483=) rs1589947511
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.1526A>G (p.Gln509Arg) rs149529997
NM_000391.4(TPP1):c.1536G>A (p.Gly512=) rs1589947461
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018
NM_000391.4(TPP1):c.1551+1G>C rs786204553
NM_000391.4(TPP1):c.1551+8T>C rs757218133
NM_000391.4(TPP1):c.1551+9G>A rs1589947443
NM_000391.4(TPP1):c.1552-4del rs1589947372
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.1554A>T (p.Val518=) rs1315475423
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) rs371204585
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) rs368697480
NM_000391.4(TPP1):c.1563C>G (p.Gly521=) rs1589947366
NM_000391.4(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)
NM_000391.4(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys) rs755878872
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.1660C>T (p.Pro554Ser)
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr)
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.4(TPP1):c.1669C>A (p.Leu557Met)
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.1687C>T (p.Pro563Ser)
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser) rs1589949717
NM_000391.4(TPP1):c.18-10G>T rs778206032
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
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.199G>C (p.Ala67Pro)
NM_000391.4(TPP1):c.202G>A (p.Val68Met) rs776937435
NM_000391.4(TPP1):c.207G>A (p.Ser69=) rs761070664
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) rs775780584
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
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.228C>T (p.Tyr76=) rs373318861
NM_000391.4(TPP1):c.229+8T>C rs1263525920
NM_000391.4(TPP1):c.230-8C>A
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp)
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.26G>T (p.Gly9Val)
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.294G>A (p.Thr98=)
NM_000391.4(TPP1):c.295G>C (p.Val99Leu) rs756622036
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.313G>T (p.Ala105Ser)
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.323C>T (p.Ala108Val)
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) rs1589948943
NM_000391.4(TPP1):c.330G>A (p.Lys110=) rs145853102
NM_000391.4(TPP1):c.333C>T (p.Cys111=) rs1589948939
NM_000391.4(TPP1):c.376_380+6del
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.381-4C>G rs529421892
NM_000391.4(TPP1):c.381-7C>T rs1435709457
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) rs748686068
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.446A>G (p.His149Arg)
NM_000391.4(TPP1):c.475C>T (p.Leu159Phe)
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
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.509-4A>G rs1589948696
NM_000391.4(TPP1):c.509-5T>C rs375548657
NM_000391.4(TPP1):c.509-8C>A
NM_000391.4(TPP1):c.510G>T (p.Val170=) rs751488322
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser)
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile)
NM_000391.4(TPP1):c.542C>A (p.Ser181Tyr)
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.563C>T (p.Pro188Leu)
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile) rs1589948627
NM_000391.4(TPP1):c.573A>T (p.Thr191=) rs1334167217
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.636C>G (p.Thr212=) rs763910597
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205
NM_000391.4(TPP1):c.648G>A (p.Val216=) rs1589948570
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr) rs372787642
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) rs372787642
NM_000391.4(TPP1):c.669C>T (p.Asn223=) rs1554901936
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg)
NM_000391.4(TPP1):c.687+6C>T rs768924191
NM_000391.4(TPP1):c.688-10C>T rs747731043
NM_000391.4(TPP1):c.688-4A>G rs370683758
NM_000391.4(TPP1):c.688-7T>A rs375262484
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys) rs1326646704
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.4(TPP1):c.6A>G (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261
NM_000391.4(TPP1):c.741C>T (p.Phe247=) rs372817942
NM_000391.4(TPP1):c.746G>T (p.Gly249Val) rs1202808351
NM_000391.4(TPP1):c.761A>G (p.Gln254Arg)
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
NM_000391.4(TPP1):c.770T>C (p.Val257Ala)
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser) rs773247372
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) rs748038934
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031
NM_000391.4(TPP1):c.778G>C (p.Val260Leu)
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) rs146136938
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.800G>A (p.Gly267Asp)
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr) rs766541487
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
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.847G>A (p.Ala283Thr)
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.858C>T (p.Asn286=) rs1420315178
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.4(TPP1):c.881G>A (p.Ser294Asn)
NM_000391.4(TPP1):c.885T>C (p.Pro295=)
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441
NM_000391.4(TPP1):c.894T>C (p.His298=) rs1589948288
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys) rs1175465002
NM_000391.4(TPP1):c.90-2A>T
NM_000391.4(TPP1):c.90-3C>T
NM_000391.4(TPP1):c.918G>A (p.Gln306=) rs943551240
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.941_942del (p.Glu314fs)
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.4(TPP1):c.956A>G (p.His319Arg) rs745310554
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile)
NM_000391.4(TPP1):c.972C>T (p.Ser324=) rs929589440
NM_000391.4(TPP1):c.996C>T (p.Leu332=) rs1589948204

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