ClinVar Miner

Variants with conflicting interpretations studied for Hereditary acrodermatitis enteropathica

Coded as:
Minimum review status of the submission for Hereditary acrodermatitis enteropathica: Collection method of the submission for Hereditary acrodermatitis enteropathica:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
127 19 0 7 11 0 0 18

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.

All conditions
Hereditary acrodermatitis enteropathica pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 7 4
likely benign 0 0 7 0 6
benign 0 0 4 6 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Hereditary acrodermatitis enteropathica 127 19 0 7 11 0 0 18

All variants with conflicting interpretations #

Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala) rs75920625 0.04681
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979 0.02971
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=) rs60615103 0.00469
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) rs144252108 0.00130
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) rs141890870 0.00114
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) rs187080747 0.00098
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) rs782454483 0.00039
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr) rs200073988 0.00024
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) rs201681875 0.00023
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_130849.4(SLC39A4):c.1149+9C>T rs139192292 0.00009
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys) rs200524049 0.00009
NM_130849.4(SLC39A4):c.804+9C>T rs200693339 0.00009
NM_130849.4(SLC39A4):c.1323T>C (p.His441=) rs143819461 0.00006
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=) rs577104686 0.00006
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004

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