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CCER1

Synonyms
C12orf12
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
21
Likely pathogenic
0
VUS
2,009
Likely benign
163
Benign
0

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on CCER1 gene are displayed below. The following symptoms were found in patients with a variant in CCER1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
42.9%
Abnormality of the eye
28.6%
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
23.8%
Abnormality of prenatal development or birth
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Growth abnormality
14.3%
Abnormality of head or neck
9.5%
Abnormality of metabolism homeostasis
9.5%
Abnormality of the endocrine system
9.5%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of limbs
4.8%
Abnormality of the immune system
4.8%
Abnormality of the integument
4.8%
Abnormality of the respiratory system
4.8%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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