AVDB

Gene GRHPR 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: GRHPR

Disorder: Hyperoxaluria II

Allele Frequency: 0.00125628

Carrier Rate: 0.00250941

Max At-Risk Couples rate: 0.0000063

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

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
300 37432004 GRHPR NM_012203.2:c.735-1G>A 2 0.000838%
794 37426650 GRHPR NM_012203.2:c.404+3_404+6delAAGT 1 0.000419%