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ZNF721

Synonyms
-
External resources

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
282
Likely pathogenic
13
VUS
4,741
Likely benign
44
Benign
0

Patient Phenotypes

Proportions of phenotypes among 292 patients carrying pathogenic or likely pathogenic variants on ZNF721 gene are displayed below. The following symptoms were found in patients with a variant in ZNF721. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38%
Abnormality of the musculoskeletal system
22.9%
Abnormality of head or neck
18.5%
Abnormality of the cardiovascular system
12.3%
Abnormality of the ear
11.3%
Growth abnormality
10.6%
Abnormality of the eye
10.3%
Abnormality of the genitourinary system
7.5%
Abnormality of blood and blood forming tissues
6.8%
Abnormality of the integument
5.8%
Abnormality of limbs
5.1%
Abnormality of metabolism homeostasis
4.1%
Abnormality of the digestive system
4.1%
Abnormality of the immune system
3.4%
Abnormality of the endocrine system
1.7%
Abnormality of prenatal development or birth
1%
Neoplasm
1%
Abnormality of the respiratory system
0.7%
Abnormal cellular phenotype
0.3%
Abnormality of the breast
0.3%
Constitutional symptom
0.3%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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