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IQCE

Synonyms
1700028P05Rik, PAPA7
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
97
Likely pathogenic
0
VUS
11,079
Likely benign
11,391
Benign
283

Patient phenotypes

Proportions of phenotypes among 95 patients carrying pathogenic or likely pathogenic variants on IQCE gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the cardiovascular system
24.2%
Abnormality of the eye
22.1%
Abnormality of the musculoskeletal system
20%
Abnormality of the ear
12.6%
Abnormality of head or neck
9.5%
Abnormality of the integument
8.4%
Abnormality of limbs
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
4.2%
Abnormality of the respiratory system
4.2%
Growth abnormality
4.2%
Abnormality of blood and blood-forming tissues
3.2%
Neoplasm
3.2%
Constitutional symptom
1.1%
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%

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