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CLASRP

Synonyms
CLASP, SFRS16, SWAP2
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
43
Likely pathogenic
1
VUS
6,959
Likely benign
2,601
Benign
0

Patient phenotypes

Proportions of phenotypes among 32 patients carring pathogenic or likely pathogenic variants on CLASRP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
34.4%
Abnormality of the nervous system
34.4%
Abnormality of the cardiovascular system
31.3%
Abnormality of head or neck
25%
Abnormality of the eye
21.9%
Abnormality of the genitourinary system
18.8%
Abnormality of the integument
18.8%
Abnormality of limbs
12.5%
Growth abnormality
12.5%
Neoplasm
12.5%
Abnormality of blood and blood-forming tissues
9.4%
Abnormality of the digestive system
6.3%
Abnormality of the ear
6.3%
Abnormality of the immune system
6.3%
Abnormality of the breast
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the respiratory system
3.1%
Abnormality of the voice
3.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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