ClinVar Miner

Variants in gene NPHP4 with conflicting interpretations

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
288 105 0 22 25 0 1 46

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 13 14
likely benign 0 0 13 0 21
benign 0 0 14 21 0

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
NM_015102.3(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.4(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697
NM_015102.4(NPHP4):c.136-4delC rs143323188
NM_015102.4(NPHP4):c.1441+13A>G rs7520105
NM_015102.4(NPHP4):c.1442-7C>T rs146078470
NM_015102.4(NPHP4):c.1470C>T (p.Leu490=) rs12116997
NM_015102.4(NPHP4):c.1482G>A (p.Gln494=) rs199557439
NM_015102.4(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705
NM_015102.4(NPHP4):c.1611+9C>T rs114900019
NM_015102.4(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635
NM_015102.4(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500
NM_015102.4(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.4(NPHP4):c.1852G>A (p.Glu618Lys) rs571655
NM_015102.4(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882
NM_015102.4(NPHP4):c.1926G>A (p.Glu642=) rs12120967
NM_015102.4(NPHP4):c.1935A>G (p.Leu645=) rs200104274
NM_015102.4(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135
NM_015102.4(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.4(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.4(NPHP4):c.2219G>A (p.Arg740His) rs34248917
NM_015102.4(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288
NM_015102.4(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.4(NPHP4):c.2643G>A (p.Ala881=) rs3747990
NM_015102.4(NPHP4):c.2724G>A (p.Ser908=) rs114545322
NM_015102.4(NPHP4):c.279+11G>A rs113902159
NM_015102.4(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.4(NPHP4):c.2820G>A (p.Ala940=) rs35575973
NM_015102.4(NPHP4):c.2868C>T (p.Ala956=) rs138025088
NM_015102.4(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067
NM_015102.4(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.4(NPHP4):c.2940G>A (p.Thr980=) rs146948888
NM_015102.4(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.4(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.4(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782
NM_015102.4(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622
NM_015102.4(NPHP4):c.3777G>A (p.Arg1259=) rs369566680
NM_015102.4(NPHP4):c.3837C>T (p.Phe1279=) rs375237454
NM_015102.4(NPHP4):c.3851G>A (p.Arg1284His) rs61739637
NM_015102.4(NPHP4):c.3876C>T (p.Gly1292=) rs115526767
NM_015102.4(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015102.4(NPHP4):c.4114C>T (p.Leu1372=) rs374146357
NM_015102.4(NPHP4):c.4141-11C>T rs139203183
NM_015102.4(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267
NM_015102.4(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810
NM_015102.4(NPHP4):c.511G>A (p.Ala171Thr) rs113765431
NM_015102.4(NPHP4):c.86C>T (p.Thr29Met) rs12142270

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