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NSRP1

Synonyms
CCDC55, HSPC095, NSrp70
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
11
Likely pathogenic
0
VUS
1,071
Likely benign
343
Benign
43

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on NSRP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
36.4%
Abnormality of the cardiovascular system
27.3%
Abnormality of the eye
27.3%
Abnormality of the nervous system
27.3%
Abnormality of the genitourinary system
18.2%
Abnormality of the ear
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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