ClinVar Miner

Variants in gene POMT1 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 Variants with at least 2 submissions 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 kind of conflict
206 65 0 27 35 0 1 53

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 3 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 1 1 0 34 10
likely benign 0 0 34 0 24
benign 0 0 10 24 0

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_001136113.1(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_007171.3(POMT1):c.1052+9A>G rs202095070
NM_007171.3(POMT1):c.1191C>T (p.His397=) rs35242383
NM_007171.3(POMT1):c.1192G>A (p.Gly398Arg) rs146869947
NM_007171.3(POMT1):c.1215C>T (p.His405=) rs202121299
NM_007171.3(POMT1):c.123-5dupT rs148086540
NM_007171.3(POMT1):c.123-6_123-5dupTT rs148086540
NM_007171.3(POMT1):c.1260C>G (p.Pro420=) rs371653610
NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) rs11243406
NM_007171.3(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_007171.3(POMT1):c.1341A>G (p.Glu447=) rs62620174
NM_007171.3(POMT1):c.1431+15C>T rs58896330
NM_007171.3(POMT1):c.1482C>T (p.Val494=) rs139687326
NM_007171.3(POMT1):c.1509C>T (p.His503=) rs139415150
NM_007171.3(POMT1):c.1545C>T (p.Tyr515=) rs62636653
NM_007171.3(POMT1):c.1552+14G>A rs142995404
NM_007171.3(POMT1):c.1552+9G>A rs547775333
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1651-14C>T rs78529026
NM_007171.3(POMT1):c.1764+10C>A rs184131819
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007171.3(POMT1):c.1793T>C (p.Val598Ala) rs144338642
NM_007171.3(POMT1):c.1892-40G>A rs187443595
NM_007171.3(POMT1):c.1892-6C>A rs140258585
NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) rs12115566
NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) rs149682171
NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) rs146512619
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.2052C>T (p.Ile684=) rs140553130
NM_007171.3(POMT1):c.2069+9G>A rs368975092
NM_007171.3(POMT1):c.2097C>T (p.Ser699=) rs778418119
NM_007171.3(POMT1):c.2126C>T (p.Ala709Val) rs138171526
NM_007171.3(POMT1):c.2133C>T (p.His711=) rs141895982
NM_007171.3(POMT1):c.2163C>A (p.Tyr721Ter) rs138902646
NM_007171.3(POMT1):c.2163C>T (p.Tyr721=) rs138902646
NM_007171.3(POMT1):c.2181G>A (p.Ser727=) rs76092524
NM_007171.3(POMT1):c.2203C>T (p.Arg735Cys) rs147266709
NM_007171.3(POMT1):c.2234G>A (p.Arg745Gln) rs144051476
NM_007171.3(POMT1):c.2244G>A (p.Ter748=) rs147143094
NM_007171.3(POMT1):c.280+7_280+8delGA rs561658895
NM_007171.3(POMT1):c.30G>A (p.Val10=) rs201533471
NM_007171.3(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_007171.3(POMT1):c.345G>A (p.Ser115=) rs147212285
NM_007171.3(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_007171.3(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_007171.3(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_007171.3(POMT1):c.751C>T (p.Arg251Trp) rs3887873
NM_007171.3(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_007171.3(POMT1):c.912C>T (p.Ala304=) rs886043307
NM_007171.3(POMT1):c.921+6T>C rs200692465
NM_007171.3(POMT1):c.957G>A (p.Leu319=) rs76109289
NM_007171.3(POMT1):c.979G>A (p.Val327Ile) rs4740164

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.