ClinVar Miner

List of variants in gene TPP1 reported by GeneDx

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Gene type:
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Total variants: 156
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HGVS dbSNP
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1
NC_000011.10:g.6616955G>A
NC_000011.10:g.6617275A>T
NC_000011.10:g.6619449A>G
NC_000011.10:g.6619522A>G
NC_000011.10:g.6619638A>G
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-33C>T rs757508432
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.4(TPP1):c.-12C>T rs770733577
NM_000391.4(TPP1):c.-20C>G rs368143492
NM_000391.4(TPP1):c.-22A>C rs767860643
NM_000391.4(TPP1):c.-3A>G rs762785189
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) rs1085307673
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr) rs1266615275
NM_000391.4(TPP1):c.1075+42C>T
NM_000391.4(TPP1):c.1076-17C>T
NM_000391.4(TPP1):c.1076-7C>T rs746276384
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) rs751321300
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230
NM_000391.4(TPP1):c.1146-107C>G
NM_000391.4(TPP1):c.1146-18G>A rs72909098
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) rs794727482
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.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) rs780656523
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.1331C>A (p.Ala444Asp) rs760974302
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1362A>G (p.Ala454=) rs141701073
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.1383G>A (p.Val461=) rs202190396
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly) rs796053433
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155
NM_000391.4(TPP1):c.139C>T (p.Leu47=) rs1057523084
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.1470G>A (p.Glu490=) rs367681647
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1515A>G (p.Pro505=) rs1057521257
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+5G>A rs778756815
NM_000391.4(TPP1):c.1551+70C>T
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) rs777744177
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.4(TPP1):c.17+17G>A
NM_000391.4(TPP1):c.18-10G>T rs778206032
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292
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.207G>A (p.Ser69=) rs761070664
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.228C>T (p.Tyr76=) rs373318861
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.230-19C>T rs1057523929
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.274del (p.Ser92fs) rs1064793806
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.4(TPP1):c.330G>A (p.Lys110=) rs145853102
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) rs796053445
NM_000391.4(TPP1):c.380+3G>A rs781744173
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.381-23G>T
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.425T>G (p.Val142Gly) rs775217501
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs) rs1554902020
NM_000391.4(TPP1):c.508+31G>A
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.509-5T>C rs375548657
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg) rs994636765
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.520C>T (p.His174Tyr) rs796053438
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205
NM_000391.4(TPP1):c.645C>T (p.Asp215=) rs766845531
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.687+32T>C
NM_000391.4(TPP1):c.688-18C>G
NM_000391.4(TPP1):c.688-18C>T rs376868997
NM_000391.4(TPP1):c.688-43C>T
NM_000391.4(TPP1):c.688-45G>A
NM_000391.4(TPP1):c.688-4A>G rs370683758
NM_000391.4(TPP1):c.688-7T>A rs375262484
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.741C>T (p.Phe247=) rs372817942
NM_000391.4(TPP1):c.75C>T (p.Pro25=) rs902447645
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter) rs1131691539
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
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.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.828T>C (p.Asp276=) rs1057522366
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn) rs796053440
NM_000391.4(TPP1):c.887-18A>G rs935526225
NM_000391.4(TPP1):c.887-7_887-6del rs35039601
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441
NM_000391.4(TPP1):c.90-12C>A
NM_000391.4(TPP1):c.90-44C>T
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.4(TPP1):c.960G>C (p.Val320=) rs1554901808
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) rs755386210

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