ClinVar Miner

List of variants in gene TPP1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_000391.3(TPP1):c.-238T>C rs1800752 0.34997
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.1146-107C>G rs1800745 0.15491
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
NM_000391.3(TPP1):c.-122T>C rs1800732 0.07336
NC_000011.10:g.6619550C>T rs1800756 0.05012
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.688-45G>A rs57382209 0.01610
NM_000391.4(TPP1):c.508+31G>A rs112765517 0.01569
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_000391.4(TPP1):c.89+101G>A rs12280037 0.00921
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_000391.4(TPP1):c.509-25C>T rs116069009 0.00892
NM_000391.4(TPP1):c.1266+28G>A rs115795247 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000391.4(TPP1):c.1146-24C>A rs13377445 0.00888
NM_000391.4(TPP1):c.1552-54C>T rs113995349 0.00882
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_000391.4(TPP1):c.1076-66T>A rs113387451 0.00625
NM_000391.4(TPP1):c.1551+70C>T rs73395131 0.00575
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.42C>A (p.Ile14=) rs35903915 0.00419
NM_000391.4(TPP1):c.688-43C>T rs144354350 0.00372
NM_000391.4(TPP1):c.90-44C>T rs147191379 0.00348
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155 0.00339
NC_000011.10:g.6619625T>C rs573628915 0.00326
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.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000391.4(TPP1):c.688-7T>A rs375262484 0.00194
NM_000391.4(TPP1):c.688-23C>T rs546701146 0.00181
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00170
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00095
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
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.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171 0.00039
NM_000391.4(TPP1):c.688-18C>T rs376868997 0.00038
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.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.1086G>A (p.Gly362=) rs140809393 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.330G>A (p.Lys110=) rs145853102 0.00014
NM_000391.4(TPP1):c.-20C>G rs368143492 0.00013
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.318C>T (p.Ala106=) rs774528021 0.00010
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.1323C>T (p.Tyr441=) rs757548236 0.00007
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396 0.00007
NM_000391.4(TPP1):c.645C>T (p.Asp215=) rs766845531 0.00007
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
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.509-5T>C rs375548657 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.741C>T (p.Phe247=) rs372817942 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.508+45G>T rs202153964 0.00005
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496 0.00005
NM_000391.4(TPP1):c.807C>T (p.Ala269=) rs148222726 0.00005
NM_000391.3(TPP1):c.-49T>C rs879531099 0.00004
NM_000391.4(TPP1):c.-3A>G rs762785189 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.1407A>G (p.Pro469=) rs750546113 0.00004
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188 0.00004
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861 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.509-3C>T rs748156385 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
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.1551+5G>A rs778756815 0.00003
NM_000391.4(TPP1):c.18-10G>T rs778206032 0.00003
NM_000391.4(TPP1):c.688-4A>G rs370683758 0.00003
NM_000391.4(TPP1):c.75C>T (p.Pro25=) rs902447645 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.891G>T (p.Arg297=) rs750527536 0.00003
NM_000391.4(TPP1):c.90-12C>A rs1213636631 0.00003
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.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501 0.00002
NM_000391.4(TPP1):c.465T>C (p.His155=) rs778947332 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.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000391.4(TPP1):c.*12C>A rs368345241 0.00001
NM_000391.4(TPP1):c.-12C>T rs770733577 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1053T>C (p.Gly351=) rs1035964173 0.00001
NM_000391.4(TPP1):c.1076-17C>T rs1258440716 0.00001
NM_000391.4(TPP1):c.1076-7C>T rs746276384 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.1146-18G>A rs72909098 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.123G>A (p.Ala41=) rs747260298 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.1362A>G (p.Ala454=) rs141701073 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.139C>T (p.Leu47=) rs1057523084 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.1588G>A (p.Glu530Lys) rs1476756779 0.00001
NM_000391.4(TPP1):c.1671G>A (p.Leu557=) rs777267276 0.00001
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292 0.00001
NM_000391.4(TPP1):c.207G>A (p.Ser69=) rs761070664 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.274del (p.Ser92fs) rs1064793806 0.00001
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) rs796053445 0.00001
NM_000391.4(TPP1):c.380+3G>A rs781744173 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.511G>C (p.Gly171Arg) rs994636765 0.00001
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748 0.00001
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923 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.80A>G (p.Gln27Arg) rs1271784840 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn) rs796053440 0.00001
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-33C>T rs757508432
NM_000391.4(TPP1):c.-22A>C rs767860643
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu) rs984125804
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) rs886037833
NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr) rs1266615275
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu) rs2134592126
NM_000391.4(TPP1):c.128C>G (p.Pro43Arg) rs796053434
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.1319G>C (p.Ser440Thr) rs1855561762
NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp) rs760974302
NM_000391.4(TPP1):c.1377C>T (p.Tyr459=) rs1554901573
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly) rs796053433
NM_000391.4(TPP1):c.1402A>C (p.Ile468Leu) rs796053443
NM_000391.4(TPP1):c.1407A>T (p.Pro469=) rs750546113
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1426-10A>T rs200965587
NM_000391.4(TPP1):c.142A>C (p.Ser48Arg) rs201847207
NM_000391.4(TPP1):c.1470G>A (p.Glu490=) rs367681647
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) rs201126448
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.1515A>G (p.Pro505=) rs1057521257
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) rs371204585
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) rs777744177
NM_000391.4(TPP1):c.17+17G>A rs1589949703
NM_000391.4(TPP1):c.186G>C (p.Ser62=) rs1310417118
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly) rs796053435
NM_000391.4(TPP1):c.206C>G (p.Ser69Trp) rs769028551
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
NM_000391.4(TPP1):c.216C>A (p.Ser72Arg) rs796053431
NM_000391.4(TPP1):c.230-19C>T rs1057523929
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.404G>A (p.Gly135Glu) rs796053436
NM_000391.4(TPP1):c.420C>T (p.His140=) rs1057521538
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs) rs1554902020
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.520C>T (p.His174Tyr) rs796053438
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.67C>T (p.Pro23Ser) rs1855632895
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.688-18C>G rs376868997
NM_000391.4(TPP1):c.73C>A (p.Pro25Thr)
NM_000391.4(TPP1):c.772_773delinsTA (p.Ala258Tyr) rs1855592380
NM_000391.4(TPP1):c.773C>T (p.Ala258Val)
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter) rs1131691539
NM_000391.4(TPP1):c.828T>C (p.Asp276=) rs1057522366
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.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.960G>C (p.Val320=) rs1554901808
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) rs755386210

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