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SIGLEC7

Synonyms
AIRM-1, AIRM1, CD328, CDw328, D-siglec, QA79, SIGLEC-7, SIGLEC19P, SIGLECP2, p75, p75/AIRM1
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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
118
Likely pathogenic
0
VUS
2,040
Likely benign
192
Benign
0

Patient phenotypes

Proportions of phenotypes among 117 patients carring pathogenic or likely pathogenic variants on SIGLEC7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.6%
Abnormality of the musculoskeletal system
27.4%
Abnormality of head or neck
20.5%
Abnormality of the cardiovascular system
18.8%
Abnormality of the eye
17.1%
Growth abnormality
16.2%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the ear
9.4%
Abnormality of limbs
7.7%
Abnormality of blood and blood-forming tissues
6.8%
Abnormality of the immune system
6%
Abnormality of the endocrine system
4.3%
Abnormality of the integument
4.3%
Abnormality of the respiratory system
4.3%
Abnormality of prenatal development or birth
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0.9%
Constitutional symptom
0.9%
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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