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C3orf52

Synonyms
TTMP
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
6,701
Likely benign
249
Benign
0

Patient phenotypes

Proportions of phenotypes among 63 patients carring pathogenic or likely pathogenic variants on C3orf52 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
28.6%
Abnormality of the eye
22.2%
Abnormality of the cardiovascular system
15.9%
Abnormality of the ear
15.9%
Growth abnormality
15.9%
Abnormality of limbs
12.7%
Abnormality of the genitourinary system
12.7%
Abnormality of the digestive system
9.5%
Abnormality of the immune system
9.5%
Abnormality of the integument
9.5%
Abnormality of the respiratory system
7.9%
Abnormality of blood and blood-forming tissues
6.3%
Neoplasm
4.8%
Abnormality of the endocrine system
3.2%
Abnormality of prenatal development or birth
1.6%
Constitutional symptom
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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