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NUDT8

Synonyms
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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
3
Likely pathogenic
1,057
VUS
974
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 1060 patients carring pathogenic or likely pathogenic variants on NUDT8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.5%
Abnormality of the musculoskeletal system
29.3%
Abnormality of head or neck
24.8%
Abnormality of the eye
19.1%
Abnormality of the cardiovascular system
18%
Abnormality of the ear
16.9%
Growth abnormality
14.9%
Abnormality of the integument
10.6%
Abnormality of the genitourinary system
10%
Abnormality of limbs
9.8%
Abnormality of the immune system
7.6%
Abnormality of the digestive system
7.4%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the respiratory system
4.1%
Abnormality of the endocrine system
3.9%
Abnormality of prenatal development or birth
2.5%
Neoplasm
2.4%
Abnormality of the breast
0.6%
Constitutional symptom
0.4%
Abnormal cellular phenotype
0.3%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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