Home > Gene Browser > LRRC75A

LRRC75A

Synonyms
C17orf76, FAM211A
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
220
Likely pathogenic
0
VUS
2,008
Likely benign
158
Benign
0

Patient Phenotypes

Proportions of phenotypes among 220 patients carrying pathogenic or likely pathogenic variants on LRRC75A gene are displayed below. The following symptoms were found in patients with a variant in LRRC75A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.4%
Abnormality of the musculoskeletal system
17.7%
Abnormality of the cardiovascular system
16.8%
Abnormality of head or neck
14.1%
Abnormality of blood and blood forming tissues
13.6%
Abnormality of the ear
11.8%
Abnormality of the eye
11.4%
Abnormality of metabolism homeostasis
7.3%
Abnormality of the genitourinary system
7.3%
Growth abnormality
5.9%
Abnormality of the immune system
5%
Abnormality of the integument
5%
Abnormality of the digestive system
3.6%
Abnormality of limbs
2.3%
Abnormality of the respiratory system
2.3%
Abnormality of prenatal development or birth
1.8%
Neoplasm
1.4%
Abnormality of the endocrine system
0.9%
Abnormal cellular phenotype
0.5%
Constitutional symptom
0.5%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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