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CCDC173

Synonyms
C2orf77
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
22
Likely pathogenic
107
VUS
4,217
Likely benign
115
Benign
0

Patient phenotypes

Proportions of phenotypes among 129 patients carring pathogenic or likely pathogenic variants on CCDC173 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.8%
Abnormality of the musculoskeletal system
27.1%
Abnormality of head or neck
26.4%
Abnormality of the cardiovascular system
22.5%
Abnormality of the eye
19.4%
Abnormality of the ear
17.1%
Growth abnormality
14.7%
Abnormality of the integument
13.2%
Abnormality of the genitourinary system
10.9%
Abnormality of limbs
8.5%
Abnormality of the digestive system
7%
Abnormality of the immune system
6.2%
Abnormality of the respiratory system
4.7%
Abnormality of blood and blood-forming tissues
3.9%
Abnormality of prenatal development or birth
3.1%
Neoplasm
2.3%
Abnormality of the endocrine system
1.6%
Constitutional symptom
1.6%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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