ClinVar Miner

List of variants in gene TPP1 studied for cerebellar degeneration

Included ClinVar conditions (276):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47846
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19324
NM_000391.4(TPP1):c.1075+42C>T rs2072651 0.18914
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15736
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00959
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00831
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00518
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00431
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00124
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00050
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00028
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00025
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00023
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00022
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505 0.00008
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00007
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) rs578253592 0.00007
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) rs761448855 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp) rs1855560526 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203 0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) rs1589948943 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00001
NM_000391.4(TPP1):c.646G>A (p.Val216Met) rs1344527425 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507 0.00001
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) rs886037833
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1075+2T>C rs1855583482
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs) rs1855576182
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1425+1G>A rs1855559040
NM_000391.4(TPP1):c.146_155del (p.Leu49fs) rs1200992439
NM_000391.4(TPP1):c.1490del (p.Arg497fs) rs2493795881
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1589_1590del (p.Glu530fs)
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.213del (p.Ser72fs)
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.337dup (p.Ser113fs) rs2493800333
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845
NM_000391.4(TPP1):c.496del (p.His166fs) rs2134595571
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-6C>G rs778046473
NM_000391.4(TPP1):c.635C>A (p.Thr212Asn)
NM_000391.4(TPP1):c.858C>T (p.Asn286=) rs1420315178
NM_000391.4(TPP1):c.89+1G>A rs1855631590
NM_000391.4(TPP1):c.916C>T (p.Gln306Ter)
NM_000391.4(TPP1):c.95C>G (p.Pro32Arg)
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.