ClinVar Miner

Variants in gene TPP1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1010 153 0 72 32 0 18 114

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 34 10 0 0
likely pathogenic 34 0 10 0 1
uncertain significance 10 10 0 29 8
likely benign 0 0 29 0 38
benign 0 1 8 38 0

All variants with conflicting interpretations #

Total variants: 114
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19324
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02566
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00959
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_000391.4(TPP1):c.1266+28G>A rs115795247 0.00890
NM_000391.4(TPP1):c.509-25C>T rs116069009 0.00835
NM_000391.4(TPP1):c.1146-24C>A rs13377445 0.00831
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00831
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00750
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00518
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00431
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155 0.00339
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00308
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 0.00175
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00157
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00124
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00093
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00080
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.688-18C>T rs376868997 0.00038
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171 0.00036
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00028
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00023
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00022
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00020
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
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.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000391.4(TPP1):c.509-5T>C rs375548657 0.00006
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 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.323C>T (p.Ala108Val) rs374132017 0.00005
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496 0.00005
NM_000391.4(TPP1):c.1407A>G (p.Pro469=) rs750546113 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861 0.00004
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.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.887-18A>G rs935526225 0.00002
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1076-2A>G rs1424116749 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del) rs1474804613 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.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203 0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 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.1543C>T (p.Leu515Phe) rs748345018 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 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.380+3G>A rs781744173 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000391.4(TPP1):c.891G>T (p.Arg297=) rs750527536 0.00001
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1075+2T>C rs1855583482
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) rs2134598107
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1471del (p.His491fs) rs1855554681
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1671G>A (p.Leu557=) rs777267276
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
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.186G>C (p.Ser62=) rs1310417118
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
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.509-1G>T rs56144125
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile) rs202025584
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg) rs1855595805
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.688-18C>G rs376868997
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000391.4(TPP1):c.887-9_887-6del rs35039601
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000391.4(TPP1):c.999C>T (p.Ser333=) rs747433613

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