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ASTE1

Synonyms
HT001
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
40
Likely pathogenic
1,695
VUS
919
Likely benign
24
Benign
0

Patient phenotypes

Proportions of phenotypes among 1731 patients carring pathogenic or likely pathogenic variants on ASTE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
29.5%
Abnormality of the eye
28.1%
Abnormality of head or neck
21.8%
Abnormality of the cardiovascular system
19.6%
Abnormality of the ear
15.4%
Growth abnormality
12%
Abnormality of the integument
11.7%
Abnormality of limbs
11.3%
Abnormality of the genitourinary system
9.7%
Abnormality of the digestive system
7.9%
Abnormality of the immune system
6.9%
Abnormality of blood and blood-forming tissues
5.2%
Abnormality of the endocrine system
4.1%
Abnormality of the respiratory system
4.1%
Neoplasm
3.6%
Abnormality of prenatal development or birth
2.9%
Constitutional symptom
1.1%
Abnormal cellular phenotype
1%
Abnormality of the breast
0.6%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0.1%
Abnormality of metabolism homeostasis
0%

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