NPHP3-ACAD11

Chr 3

NPHP3-ACAD11 readthrough (NMD candidate)

NCBI Gene: 100532724ENSG00000274810
583
ClinVar variants
73
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— NPHP3-ACAD11
📋
ClinVar Variants
73 Pathogenic / Likely Pathogenic· 260 VUS of 583 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

583 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic41
Likely Pathogenic32
VUS260
Likely Benign209
Benign11
Conflicting30
41
Pathogenic
32
Likely Pathogenic
260
VUS
209
Likely Benign
11
Benign
30
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
18
4
19
0
41
Likely Pathogenic
17
7
8
0
32
VUS
1
231
24
4
260
Likely Benign
0
9
89
111
209
Benign
0
0
9
2
11
Conflicting
—30
Total36251149117583

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NPHP3-ACAD11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for NPHP3-ACAD11

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools