Home > Gene Browser > CCDC171

CCDC171

Synonyms
C9orf93, bA536D16.1, bA778P13.1
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
57
Likely pathogenic
40
VUS
17,356
Likely benign
454
Benign
0

Patient phenotypes

Proportions of phenotypes among 76 patients carring pathogenic or likely pathogenic variants on CCDC171 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.8%
Abnormality of the musculoskeletal system
32.9%
Abnormality of head or neck
30.3%
Abnormality of the eye
23.7%
Abnormality of the integument
22.4%
Abnormality of the cardiovascular system
18.4%
Abnormality of limbs
13.2%
Abnormality of the ear
11.8%
Growth abnormality
11.8%
Abnormality of the genitourinary system
10.5%
Abnormality of blood and blood-forming tissues
6.6%
Abnormality of the immune system
6.6%
Abnormality of the digestive system
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of prenatal development or birth
3.9%
Abnormality of the endocrine system
3.9%
Neoplasm
3.9%
Abnormality of the breast
1.3%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes