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CCDC175

Synonyms
C14orf38, c14_5395
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
35
Likely pathogenic
2
VUS
4,169
Likely benign
185
Benign
0

Patient phenotypes

Proportions of phenotypes among 35 patients carring pathogenic or likely pathogenic variants on CCDC175 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the eye
34.3%
Abnormality of the ear
25.7%
Abnormality of the musculoskeletal system
25.7%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
17.1%
Growth abnormality
14.3%
Abnormality of the integument
11.4%
Abnormality of limbs
8.6%
Neoplasm
8.6%
Abnormality of the digestive system
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of the genitourinary system
5.7%
Abnormality of the immune system
5.7%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of the respiratory system
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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