ClinVar Miner

List of variants in gene TPP1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.*1628G>A rs7488 0.76311
NM_000391.4(TPP1):c.*1588C>T rs7487 0.44955
NM_000391.4(TPP1):c.*1118G>C rs1045450 0.27054
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000391.4(TPP1):c.*71G>A rs140680586 0.01221
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_000391.4(TPP1):c.*986C>G rs188148381 0.00455
NM_000391.4(TPP1):c.*1540T>C rs374146578 0.00387
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155 0.00339
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000391.4(TPP1):c.*1250T>A rs193029892 0.00215
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000391.4(TPP1):c.*1570C>T rs369352772 0.00175
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_000391.4(TPP1):c.*829C>T rs533616443 0.00062
NM_000391.3(TPP1):c.-40T>C rs200184958 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000391.4(TPP1):c.*1282C>A rs1032115129 0.00042
NM_000391.4(TPP1):c.*312T>C rs201122774 0.00041
NM_000391.4(TPP1):c.*314del rs202155605 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.*241T>C rs74843914 0.00029
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000391.4(TPP1):c.*223T>C rs538963672 0.00021
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000391.4(TPP1):c.*1774G>A rs886048532 0.00015
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000391.4(TPP1):c.*346A>G rs149218047 0.00010
NM_000391.4(TPP1):c.*1478T>A rs775934269 0.00009
NM_000391.4(TPP1):c.*704C>T rs1033619913 0.00009
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_000391.4(TPP1):c.*1412T>G rs886048535 0.00006
NM_000391.4(TPP1):c.*1428T>C rs188544089 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000391.4(TPP1):c.*785T>G rs764323122 0.00004
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807 0.00004
NM_000391.4(TPP1):c.*44T>A rs370517226 0.00003
NM_000391.4(TPP1):c.*1560C>T rs541932361 0.00002
NM_000391.4(TPP1):c.*984T>A rs1000719227 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000391.4(TPP1):c.*1634T>C rs886048534 0.00001
NM_000391.4(TPP1):c.*1715T>C rs886048533 0.00001
NM_000391.4(TPP1):c.*171T>C rs953806091 0.00001
NM_000391.4(TPP1):c.*668C>A rs886048539 0.00001
NM_000391.4(TPP1):c.*716C>A rs957511928 0.00001
NM_000391.4(TPP1):c.*937C>T rs1339024138 0.00001
NM_000391.4(TPP1):c.-21G>A rs760667554 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.1552-14A>C rs1006965532 0.00001
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.993C>T (p.Ser331=) rs1855585414 0.00001
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.4(TPP1):c.*1000T>C rs886048538
NM_000391.4(TPP1):c.*1108T>C rs1855527274
NM_000391.4(TPP1):c.*1216dup rs575737269
NM_000391.4(TPP1):c.*124C>T rs985151429
NM_000391.4(TPP1):c.*1302A>T rs886048537
NM_000391.4(TPP1):c.*1311C>T rs886048536
NM_000391.4(TPP1):c.*1508G>A rs561558362
NM_000391.4(TPP1):c.*1741G>T rs1299016829
NM_000391.4(TPP1):c.1116C>T (p.His372=) rs751321300
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.886+7C>T rs886048543
NM_000391.4(TPP1):c.887-5del rs886048540
NM_000391.4(TPP1):c.887-6_887-5del rs886048541
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7_887-6del rs35039601

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