ClinVar Miner

Variants in gene TPM1 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:
ClinVar version:

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
670 111 1 37 13 0 16 64

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 7 2 0 0
likely pathogenic 7 1 15 0 0
uncertain significance 2 15 0 12 2
likely benign 0 0 12 0 30
benign 0 0 2 30 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_001018005.2(TPM1):c.851+99dup rs201411148 0.00955
NM_001018005.2(TPM1):c.639+22G>C rs28730802 0.00782
NM_001018020.2(TPM1):c.*31G>A rs11558748 0.00598
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
NM_001018005.2(TPM1):c.115-262C>T rs74573041 0.00079
NM_001018005.2(TPM1):c.*68A>G rs374459540 0.00054
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001018005.2(TPM1):c.639+21G>C rs199989220 0.00041
NM_001018005.2(TPM1):c.177A>G (p.Lys59=) rs149346709 0.00031
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018005.2(TPM1):c.115-214C>G rs947201175 0.00021
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.2(TPM1):c.493-18T>G rs377726678 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001018005.2(TPM1):c.241-8C>T rs765893032 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001018005.2(TPM1):c.563+347C>T rs759081217 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=) rs774859181 0.00002
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.703-3C>T rs796682308 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.840T>C (p.Asp280=) rs749271066 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.1(TPM1):c.-186G>A rs541046450
NM_001018005.2(TPM1):c.115-238G>C rs730881126
NM_001018005.2(TPM1):c.115-277G>A rs1312883932
NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile) rs1060501866
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.45G>A (p.Lys15=) rs199476301
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.87G>A (p.Lys29=) rs530234301

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