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LRRC34

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
37
Likely pathogenic
16
VUS
7,923
Likely benign
1,479
Benign
0

Patient phenotypes

Proportions of phenotypes among 52 patients carring pathogenic or likely pathogenic variants on LRRC34 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40.4%
Abnormality of the nervous system
40.4%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the cardiovascular system
28.8%
Abnormality of head or neck
25%
Abnormality of the genitourinary system
15.4%
Growth abnormality
13.5%
Abnormality of the integument
11.5%
Abnormality of limbs
9.6%
Abnormality of the ear
9.6%
Abnormality of the digestive system
7.7%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of prenatal development or birth
1.9%
Abnormality of the immune system
1.9%
Abnormality of the respiratory system
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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