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HRNR

Synonyms
FLG3, S100A16, S100a18
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
7,887
Likely pathogenic
5,492
VUS
45,707
Likely benign
6,462
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5921 patients carrying pathogenic or likely pathogenic variants on HRNR gene are displayed below. The following symptoms were found in patients with a variant in HRNR. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.8%
Abnormality of the eye
26.6%
Abnormality of the musculoskeletal system
26.4%
Abnormality of head or neck
20.7%
Abnormality of the cardiovascular system
15.6%
Abnormality of the ear
13.5%
Growth abnormality
12.4%
Abnormality of the integument
9.4%
Abnormality of the genitourinary system
8.8%
Abnormality of limbs
8.6%
Abnormality of metabolism homeostasis
7.5%
Abnormality of the digestive system
6.5%
Abnormality of the immune system
6.5%
Abnormality of blood and blood forming tissues
5.6%
Abnormality of the endocrine system
3.7%
Abnormality of the respiratory system
3.1%
Abnormality of prenatal development or birth
2.5%
Neoplasm
2.3%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.5%
Abnormality of the voice
0.3%
Abnormality of the thoracic cavity
0%

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