ClinVar Miner

Variants in gene MPZ 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
518 67 0 27 7 0 28 57

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 23 11 1 0
likely pathogenic 23 0 18 1 0
uncertain significance 11 18 0 7 2
likely benign 1 1 7 0 4
benign 0 0 2 4 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.235-1G>T rs1571819375
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) rs863224449
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.