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ZNF627

Synonyms
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External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
1
Likely pathogenic
91
VUS
4,165
Likely benign
155
Benign
0

Patient phenotypes

Proportions of phenotypes among 92 patients carrying pathogenic or likely pathogenic variants on ZNF627 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
35.9%
Abnormality of the nervous system
33.7%
Abnormality of the musculoskeletal system
20.7%
Growth abnormality
13%
Abnormality of head or neck
12%
Abnormality of the ear
10.9%
Abnormality of the eye
10.9%
Abnormality of the genitourinary system
5.4%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of limbs
3.3%
Abnormality of prenatal development or birth
3.3%
Abnormality of the endocrine system
3.3%
Abnormality of the immune system
3.3%
Abnormality of the integument
3.3%
Abnormality of the digestive system
2.2%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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