ZNF691-DT

Chr 1

ZNF691 divergent transcript

36
ClinVar variants
6
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryZNF691-DT
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 28 VUS of 36 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

36 submitted variants in ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic2
VUS28
Likely Benign2
4
Pathogenic
2
Likely Pathogenic
28
VUS
2
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
2
0
2
VUS
0
28
0
0
28
Likely Benign
0
0
0
2
2
Benign
0
0
0
0
0
Total0286236

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNF691-DT · 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.