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ZNF714

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
63
Likely pathogenic
0
VUS
1,464
Likely benign
18
Benign
0

Patient phenotypes

Proportions of phenotypes among 58 patients carring pathogenic or likely pathogenic variants on ZNF714 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.1%
Abnormality of the musculoskeletal system
31%
Abnormality of head or neck
25.9%
Abnormality of the eye
20.7%
Abnormality of the cardiovascular system
13.8%
Abnormality of the ear
13.8%
Growth abnormality
13.8%
Abnormality of the genitourinary system
10.3%
Abnormality of the integument
10.3%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of limbs
6.9%
Abnormality of the digestive system
6.9%
Abnormality of prenatal development or birth
5.2%
Abnormality of the respiratory system
5.2%
Abnormality of the immune system
3.4%
Abnormal cellular phenotype
1.7%
Abnormality of the endocrine system
1.7%
Neoplasm
1.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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