EXO5-DT

Chr 1

EXO5 divergent transcript

NCBI Gene: 105378672ENSG00000238287
58
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— EXO5-DT
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 52 VUS of 58 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS52
Likely Benign1
4
Pathogenic
1
Likely Pathogenic
52
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
1
0
1
VUS
0
52
0
0
52
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total0525158

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

View in ClinVar →

Protein Context — Lollipop Plot

EXO5-DT · 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 EXO5-DT

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