ClinVar Miner

Variants in gene TRMU with conflicting interpretations

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
648 47 0 16 25 1 7 42

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 risk factor
pathogenic 0 6 3 0 0 0
likely pathogenic 6 0 6 0 0 0
uncertain significance 3 6 0 25 2 0
likely benign 0 0 25 0 10 1
benign 0 0 2 10 0 1
risk factor 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018006.5(TRMU):c.82+5G>C rs771076163 0.00006
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys) rs150043707 0.00003
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_018006.5(TRMU):c.83-4G>A rs369925943 0.00002
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018006.5(TRMU):c.369T>C (p.Ile123=) rs546183296 0.00001
NM_018006.5(TRMU):c.579G>T (p.Gly193=) rs1294405938 0.00001
NM_018006.5(TRMU):c.651+9G>A rs1006261196 0.00001
NM_018006.5(TRMU):c.705+10del rs1569081805 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_018006.5(TRMU):c.102G>A (p.Val34=) rs1426898716
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.248+1G>A
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.2T>C (p.Met1Thr) rs118203992
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018006.5(TRMU):c.99G>A (p.Gly33=) rs1569060096

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