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FRG2C

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
13,178
Likely pathogenic
0
VUS
490,867
Likely benign
4,550
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6210 patients carrying pathogenic or likely pathogenic variants on FRG2C gene are displayed below. The following symptoms were found in patients with a variant in FRG2C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.6%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the eye
27.9%
Abnormality of head or neck
24.3%
Abnormality of the cardiovascular system
23.5%
Abnormality of the ear
14.4%
Growth abnormality
13.9%
Abnormality of the integument
13.5%
Abnormality of limbs
12.8%
Abnormality of the genitourinary system
12%
Abnormality of metabolism homeostasis
10%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
7.3%
Abnormality of the endocrine system
4.6%
Abnormality of the respiratory system
4.4%
Abnormality of blood and blood forming tissues
4.2%
Neoplasm
3.5%
Abnormality of prenatal development or birth
3.2%
Constitutional symptom
1.7%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0.8%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0%

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