AVDB

Gene TMEM237 Details

It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.

Gene: TMEM237

Disorder: Joubert syndrome related disorder

Allele Frequency: 0.00041876

Carrier Rate: 0.00083717

Max At-Risk Couples rate: 0.000000701

The table below lists all clinically relevant variants identified in the TMEM237 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
589 202493952 TMEM237 NM_001044385.3:c.869+1G>A 1 0.000419%