ClinVar Miner

Variants with conflicting interpretations studied for Amelocerebrohypohidrotic syndrome

Coded as:
Minimum review status of the submission for Amelocerebrohypohidrotic syndrome: Collection method of the submission for Amelocerebrohypohidrotic syndrome:
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
504 21 0 12 13 0 1 25

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
Amelocerebrohypohidrotic syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 1
likely pathogenic 4 0 0 0 0
uncertain significance 0 0 0 9 5
likely benign 0 0 9 0 8
benign 1 0 5 8 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
Amelocerebrohypohidrotic syndrome 504 21 0 12 13 0 1 25

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_024589.3(ROGDI):c.118-13C>G rs201794245 0.00137
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) rs148051351 0.00073
NM_024589.3(ROGDI):c.432+13C>T rs371432203 0.00071
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_024589.3(ROGDI):c.696-8G>T rs3747609 0.00008
NM_024589.3(ROGDI):c.823-10C>T rs199642172 0.00007
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124

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