ClinVar Miner

Variants with conflicting interpretations studied for Nephrotic syndrome, type 2

Coded as:
Minimum review status of the submission for Nephrotic syndrome, type 2: Collection method of the submission for Nephrotic syndrome, type 2:
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
105 50 0 24 2 0 8 32

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
Nephrotic syndrome, type 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 20 6 0 1
likely pathogenic 20 0 2 0 1
uncertain significance 6 2 0 0 2
likely benign 0 0 0 0 4
benign 1 1 2 4 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
Nephrotic syndrome, type 2 105 50 0 24 2 0 8 32

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.03013
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014625.4(NPHS2):c.873+2T>A rs967339926 0.00001
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter) rs869312746
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.4(NPHS2):c.738+2T>C rs1212702104
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys) rs1673254835
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868

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.