ClinVar Miner

List of variants in gene TPP1 reported by Invitae

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Total variants: 97
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HGVS dbSNP
NM_000391.3(TPP1):c.1009A>C (p.Ile337Leu)
NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.3(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.3(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.3(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.3(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.3(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.3(TPP1):c.1123C>T (p.Arg375Cys)
NM_000391.3(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.3(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.3(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.3(TPP1):c.1192C>T (p.Leu398Phe) rs149319579
NM_000391.3(TPP1):c.1208T>C (p.Ile403Thr)
NM_000391.3(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020
NM_000391.3(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.3(TPP1):c.1241A>T (p.Asn414Ile) rs146798796
NM_000391.3(TPP1):c.1252C>T (p.Arg418Trp)
NM_000391.3(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.1266+8T>C rs752269166
NM_000391.3(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.3(TPP1):c.127C>G (p.Pro43Ala) rs1314595290
NM_000391.3(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.3(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.3(TPP1):c.1307T>C (p.Leu436Pro) rs150039898
NM_000391.3(TPP1):c.1328A>G (p.Asn443Ser) rs139343938
NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.3(TPP1):c.1396G>A (p.Val466Met) rs78970155
NM_000391.3(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.3(TPP1):c.1426-10A>G rs200965587
NM_000391.3(TPP1):c.1426-10A>T rs200965587
NM_000391.3(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
NM_000391.3(TPP1):c.1451T>C (p.Ile484Thr) rs748533410
NM_000391.3(TPP1):c.1466A>G (p.Asn489Ser) rs751645191
NM_000391.3(TPP1):c.1489C>T (p.Arg497Cys) rs377700188
NM_000391.3(TPP1):c.1490G>A (p.Arg497His) rs549928656
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.1496C>G (p.Pro499Arg) rs773707856
NM_000391.3(TPP1):c.1496C>T (p.Pro499Leu) rs773707856
NM_000391.3(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.3(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.3(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.3(TPP1):c.1613C>G (p.Ser538Cys)
NM_000391.3(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.3(TPP1):c.18-10G>T rs778206032
NM_000391.3(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.3(TPP1):c.185C>T (p.Ser62Leu) rs2734715
NM_000391.3(TPP1):c.219T>C (p.Ser73=) rs1456089848
NM_000391.3(TPP1):c.229+8T>C rs1263525920
NM_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.3(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.3(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000391.3(TPP1):c.381-4C>G rs529421892
NM_000391.3(TPP1):c.425T>G (p.Val142Gly) rs775217501
NM_000391.3(TPP1):c.42C>A (p.Ile14=) rs35903915
NM_000391.3(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.3(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.3(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.3(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.3(TPP1):c.554G>A (p.Arg185His) rs773455971
NM_000391.3(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.626A>G (p.Tyr209Cys) rs1554901957
NM_000391.3(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.3(TPP1):c.665A>C (p.Asn222Thr)
NM_000391.3(TPP1):c.669C>T (p.Asn223=) rs1554901936
NM_000391.3(TPP1):c.687+6C>T rs768924191
NM_000391.3(TPP1):c.688-4A>G rs370683758
NM_000391.3(TPP1):c.688-7T>A rs375262484
NM_000391.3(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.3(TPP1):c.734G>A (p.Arg245His)
NM_000391.3(TPP1):c.772G>T (p.Ala258Ser)
NM_000391.3(TPP1):c.775C>T (p.Arg259Cys)
NM_000391.3(TPP1):c.78C>A (p.Asp26Glu) rs760252179
NM_000391.3(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.3(TPP1):c.797G>A (p.Arg266Gln) rs757953998
NM_000391.3(TPP1):c.7C>A (p.Leu3Ile) rs142163063
NM_000391.3(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.3(TPP1):c.812T>C (p.Ile271Thr)
NM_000391.3(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.3(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.3(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.3(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.3(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.3(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.3(TPP1):c.959T>G (p.Val320Gly) rs1314521780

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