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Gene BrowserrightAQP2

AQP2

aquaporin 2

HCNC Approved Symbol
AQP2 (HGNC:634)
Genomic Coordinates
12:49,950,737 - 49,958,878 (12q13.12)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

Total 5 patients were diagnosed with a variant in the AQP2 gene.

Frequently observed phenotypes (Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

05
Patient count
Nephrogenic diabetes insipidus
 3(60.0%)
Patient Count: 3 (60.0%)

% of total patients presenting each phenotype is shown in parentheses.

 3(60.0%)
Diabetes insipidus
 2(40.0%)
Patient Count: 2 (40.0%)

% of total patients presenting each phenotype is shown in parentheses.

 2(40.0%)
Abnormality of the kidney
 1(20.0%)
Patient Count: 1 (20.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(20.0%)
T-cell lymphoma/leukemia
 1(20.0%)
Patient Count: 1 (20.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(20.0%)
Anemia
 1(20.0%)
Patient Count: 1 (20.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(20.0%)
No Results
• Last updated: 2024-06-30
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If you are searching for a patient with atypical phenotype or potential novel disease mechanism, or a patient with a specific variant*, please contact us.

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Your variant of interest may already be in ClinVar.