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KRBA1

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
1,841
Likely pathogenic
0
VUS
12,747
Likely benign
154
Benign
0

Patient phenotypes

Proportions of phenotypes among 1591 patients carring pathogenic or likely pathogenic variants on KRBA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the musculoskeletal system
33.2%
Abnormality of the eye
28.5%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
22.1%
Abnormality of the ear
16%
Growth abnormality
13.7%
Abnormality of the integument
13.6%
Abnormality of limbs
12.9%
Abnormality of the genitourinary system
10.9%
Abnormality of the digestive system
9.4%
Abnormality of the immune system
7.2%
Abnormality of the endocrine system
4.7%
Abnormality of the respiratory system
4.7%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of prenatal development or birth
4.3%
Neoplasm
3.2%
Constitutional symptom
1.6%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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