ClinVar Miner

Variants in gene MPI 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
405 39 0 29 20 0 5 51

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 22 2 0 0
likely pathogenic 22 0 3 0 0
uncertain significance 2 3 0 20 3
likely benign 0 0 20 0 7
benign 0 0 3 7 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_002435.3(MPI):c.670+11T>C rs144118442 0.00046
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val) rs376746368 0.00006
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.145-11T>C rs768029221 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1212C>T (p.Val404=) rs2064843052
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423

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