ClinVar Miner

List of variants in gene TPP1 studied for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000391.4(TPP1):c.*1628G>A rs7488 0.76311
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
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.1075+42C>T rs2072651 0.18683
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15684
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
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.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_000391.4(TPP1):c.381-23G>T rs181191327 0.00312
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.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_000391.4(TPP1):c.*829C>T rs533616443 0.00062
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.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_000391.4(TPP1):c.*241T>C rs74843914 0.00029
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
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.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_000391.4(TPP1):c.*223T>C rs538963672 0.00021
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) rs143584882 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.330G>A (p.Lys110=) rs145853102 0.00014
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938 0.00013
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.1027G>A (p.Glu343Lys) rs121908197 0.00009
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.859A>G (p.Ile287Val) rs578253592 0.00007
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_000391.4(TPP1):c.*1428T>C rs188544089 0.00006
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser) rs368435226 0.00006
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) rs374132017 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218 0.00006
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) rs372787642 0.00006
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556 0.00005
NM_000391.4(TPP1):c.807C>T (p.Ala269=) rs148222726 0.00005
NM_000391.4(TPP1):c.*785T>G rs764323122 0.00004
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr) rs146927291 0.00004
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) rs1085307673 0.00004
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807 0.00004
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp) rs771113565 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172 0.00004
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu) rs550590502 0.00004
NM_000391.4(TPP1):c.770T>C (p.Val257Ala) rs763009524 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000391.4(TPP1):c.*44T>A rs370517226 0.00003
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) rs751321300 0.00003
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020 0.00003
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) rs751645191 0.00003
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) rs201126448 0.00003
NM_000391.4(TPP1):c.1551+5G>A rs778756815 0.00003
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) rs368697480 0.00003
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) rs760252179 0.00003
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) rs141920079 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 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.1090G>A (p.Gly364Arg) rs756237773 0.00002
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.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) rs748533410 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr) rs1421089514 0.00002
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195 0.00002
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501 0.00002
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) rs146136938 0.00002
NM_000391.4(TPP1):c.79C>G (p.Gln27Glu) rs775155638 0.00002
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000391.4(TPP1):c.90-3C>T rs767078570 0.00002
NM_000391.4(TPP1):c.956A>G (p.His319Arg) rs745310554 0.00002
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile) rs773946638 0.00002
NM_000391.4(TPP1):c.*1634T>C rs886048534 0.00001
NM_000391.4(TPP1):c.*171T>C rs953806091 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.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr) rs764077257 0.00001
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln) rs199866669 0.00001
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro) rs1266615275 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys) rs368914445 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) rs794727482 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.119G>A (p.Arg40His) rs549309216 0.00001
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821 0.00001
NM_000391.4(TPP1):c.1266+4C>T rs777551142 0.00001
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) rs780656523 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu) rs1300168808 0.00001
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203 0.00001
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648 0.00001
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu) rs1245220130 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.1552-14A>C rs1006965532 0.00001
NM_000391.4(TPP1):c.1552-1G>A rs1057516511 0.00001
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn) rs375364589 0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 0.00001
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys) rs755878872 0.00001
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321 0.00001
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263 0.00001
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292 0.00001
NM_000391.4(TPP1):c.202G>A (p.Val68Met) rs776937435 0.00001
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) rs775780584 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.230-8C>A rs537703785 0.00001
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser) rs535584300 0.00001
NM_000391.4(TPP1):c.294G>A (p.Thr98=) rs141417655 0.00001
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) rs796053445 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.508+10A>G rs765877652 0.00001
NM_000391.4(TPP1):c.509-6C>G rs778046473 0.00001
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg) rs994636765 0.00001
NM_000391.4(TPP1):c.51C>G (p.Gly17=) rs755019471 0.00001
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748 0.00001
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro) rs1481131397 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.687+6C>T rs768924191 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) rs748038934 0.00001
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp) rs778410642 0.00001
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr) rs766541487 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 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.968T>C (p.Val323Ala) rs770155767 0.00001
NM_000391.4(TPP1):c.993C>T (p.Ser331=) rs1855585414 0.00001
NM_000391.4(TPP1):c.*1000T>C rs886048538
NM_000391.4(TPP1):c.*1108T>C rs1855527274
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.1012C>G (p.Gln338Glu)
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu) rs765380155
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) rs121908206
NM_000391.4(TPP1):c.1075+2T>C rs1855583482
NM_000391.4(TPP1):c.1075+5C>T rs1242288949
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) rs1564854729
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
NM_000391.4(TPP1):c.1116C>T (p.His372=) rs751321300
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr) rs761448855
NM_000391.4(TPP1):c.1146-199G>A
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) rs121908198
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg)
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu) rs567523850
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser) rs1420637772
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) rs2134598107
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro) rs119455956
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr) rs1589947644
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) rs121908201
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) rs1855559514
NM_000391.4(TPP1):c.1434T>C (p.Thr478=) rs1855555887
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg) rs121908208
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1450dup (p.Ile484fs)
NM_000391.4(TPP1):c.147del (p.Thr50fs)
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) 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.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) rs371204585
NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys) rs1157546558
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter) rs1554901472
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) rs777744177
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) rs2134590423
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser) rs121908210
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro)
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser) rs1589949717
NM_000391.4(TPP1):c.18-5T>C rs1855634037
NM_000391.4(TPP1):c.18-7C>T rs1855634111
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs)
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.230-2A>G
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.35C>T (p.Ala12Val) rs1855633689
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) rs1554902043
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.509-8C>A rs771299096
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg) rs1368354280
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.533del (p.Pro178fs) rs1855599044
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser) rs1488047336
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.687+1G>C rs1465284719
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.688-1G>T rs1855593862
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys) rs1326646704
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys) rs587780481
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu) rs1855592796
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) rs1356628460
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn) rs1324731086
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter) rs1405952769
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) rs776489592
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) rs121908196
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
NM_000391.4(TPP1):c.886+5del rs1855590004
NM_000391.4(TPP1):c.886+7C>T rs886048543
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7_887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala) rs1855632314
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg) rs1564855000
NM_000391.4(TPP1):c.899del (p.Gly300fs) rs2134593910
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000391.4(TPP1):c.987_989del (p.Glu329del) rs1222920812
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr) rs755386210
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) rs755386210

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