ClinVar Miner

Variants in gene MPV17 with conflicting interpretations

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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
259 30 1 8 8 0 7 23

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
pathogenic 1 8 3 0
likely pathogenic 8 0 5 0
uncertain significance 3 5 0 8
likely benign 0 0 8 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00012
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.217T>A (p.Leu73Met) rs766487119 0.00002
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002437.5(MPV17):c.70+8T>G rs755647054 0.00001
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_002437.5(MPV17):c.185del (p.Val62fs) rs755624411
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.279+9_279+11del rs751559319
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.450C>T (p.Pro150=) rs1244633595
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725

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