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LRRFIP1

Synonyms
FLAP-1, FLAP1, FLIIAP1, GCF-2, GCF2, HUFI-1, TRIP
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
13
Likely pathogenic
0
VUS
15,031
Likely benign
2,221
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on LRRFIP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the cardiovascular system
46.2%
Abnormality of the eye
30.8%
Abnormality of the genitourinary system
30.8%
Abnormality of head or neck
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of limbs
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the ear
15.4%
Abnormality of the integument
15.4%
Growth abnormality
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of prenatal development or birth
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the voice
7.7%
Constitutional symptom
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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