ClinVar Miner

Variants in gene NPHS2 with conflicting interpretations

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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
266 41 0 20 3 2 6 26

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 drug response risk factor
pathogenic 0 13 4 0 1 0 1
likely pathogenic 13 0 2 0 1 0 0
uncertain significance 4 2 0 1 2 1 1
likely benign 0 0 1 0 7 0 0
benign 1 1 2 7 0 0 0
drug response 0 0 1 0 0 0 0
risk factor 1 0 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
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.182C>T (p.Ala61Val) rs201050491 0.00575
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_014625.4(NPHS2):c.447C>T (p.Gly149=) rs139111416 0.00289
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NC_000001.11:g.179576028G>A rs553068590 0.00026
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.416T>G (p.Leu139Arg) rs1345260812 0.00001
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.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.304G>A (p.Glu102Lys) rs1553315157
NM_014625.4(NPHS2):c.451+2T>A rs786204708
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

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