ClinVar Miner

List of variants in gene TPP1 reported as likely pathogenic

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505 0.00008
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 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.1552-1G>A rs1057516511 0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 0.00001
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321 0.00001
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.649G>C (p.Gly217Arg) rs1330875156 0.00001
NM_000391.4(TPP1):c.650G>T (p.Gly217Val) rs975304153 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
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.1048C>T (p.Arg350Trp) rs1554901784
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.1087del (p.Ala363fs) rs2134592949
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1145+2T>C
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.1176_1177del (p.Phe393fs)
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
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+1G>A
NM_000391.4(TPP1):c.1266+1G>T
NM_000391.4(TPP1):c.1267-2A>G rs1855562978
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.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.1425+1G>A
NM_000391.4(TPP1):c.1425+2T>G rs2134591515
NM_000391.4(TPP1):c.1426-1G>A rs867927501
NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.147del (p.Thr50fs)
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.17+2T>A
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.230-1G>A
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.230-2A>G
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.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.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.533del (p.Pro178fs) rs1855599044
NM_000391.4(TPP1):c.605C>A (p.Pro202His)
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro) rs121908209
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)
NM_000391.4(TPP1):c.687+2T>A
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.824T>G (p.Leu275Arg) rs2134594286
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
NM_000391.4(TPP1):c.886+2del
NM_000391.4(TPP1):c.90-2A>T rs1855627953
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

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