AVDB

Gene GNRHR 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: GNRHR

Disorder: Hypogonadotropic hypogonadism

Allele Frequency: 0.00293132

Carrier Rate: 0.00584546

Max At-Risk Couples rate: 0.0000342

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

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
74 68619737 GNRHR NM_000406.3:c.317A>G NP_000397.1:p.Gln106Arg 5 0.002094%
269 68606400 GNRHR NM_000406.3:c.785G>A NP_000397.1:p.Arg262Gln 2 0.000838%