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ZNF700

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
38
Likely pathogenic
5
VUS
1,509
Likely benign
33
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carring pathogenic or likely pathogenic variants on ZNF700 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.5%
Abnormality of the musculoskeletal system
39.5%
Abnormality of head or neck
32.6%
Abnormality of the ear
14%
Abnormality of the integument
14%
Abnormality of the eye
11.6%
Abnormality of limbs
9.3%
Abnormality of the digestive system
9.3%
Abnormality of the immune system
9.3%
Growth abnormality
9.3%
Abnormality of the cardiovascular system
7%
Abnormality of the respiratory system
7%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the genitourinary system
4.7%
Abnormality of prenatal development or birth
2.3%
Abnormality of the endocrine system
2.3%
Abnormality of the voice
2.3%
Constitutional symptom
2.3%
Neoplasm
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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