ZNF594-DT

Chr 17

ZNF594 divergent transcript

33
ClinVar variants
12
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryZNF594-DT
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 17 VUS of 33 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

33 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic2
VUS17
Likely Benign4
10
Pathogenic
2
Likely Pathogenic
17
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
2
0
2
VUS
0
16
0
1
17
Likely Benign
0
2
1
1
4
Benign
0
0
0
0
0
Total01813233

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNF594-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.