CCDC92B

Chr 17

coiled-coil domain containing 92B

25
ClinVar variants
25
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCCDC92B
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic of 25 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic3
22
Pathogenic
3
Likely Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
22
Likely Pathogenic
3
VUS
0
Likely Benign
0
Benign
0
Total25

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CCDC92B · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.