ClinVar Miner

List of variants in gene TPP1 reported as uncertain significance by Invitae

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Total variants: 67
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HGVS dbSNP
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys)
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)
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.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.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.1351G>T (p.Asp451Tyr)
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
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.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.1526A>G (p.Gln509Arg) rs149529997
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.1613C>G (p.Ser538Cys)
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser)
NM_000391.4(TPP1):c.202G>A (p.Val68Met)
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly)
NM_000391.4(TPP1):c.295G>C (p.Val99Leu)
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.554G>A (p.Arg185His) rs773455971
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile)
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys) rs1554901957
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr)
NM_000391.4(TPP1):c.687+6C>T rs768924191
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)
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.782T>C (p.Val261Ala)
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) rs760252179
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.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys)
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

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