CLRN2
Chr 4ARclarin 2
Also known as: DFNB117
Primary Disease Associations & Inheritance
Deafness, autosomal recessive 117MIM #619174
AR
Clinical highlights
Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ARModerateconsider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.000
Z-score 0.18
OE 0.94 (0.56–1.61)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.26Z-score
OE missense 0.94 (0.82–1.08)
136 obs / 144.9 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.94 (0.56–1.61)
0≤0.351.4
Missense OE?0.94 (0.82–1.08)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 9 / 9.6Missense obs/exp: 136 / 144.9Syn Z: -0.77
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CLRN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools