AVDB

Gene DNASE1L3 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: DNASE1L3

Disorder: Systemic lupus erythematosus 16

Allele Frequency: 0.00167504

Carrier Rate: 0.00334447

Max At-Risk Couples rate: 0.0000112

The table below lists all clinically relevant variants identified in the DNASE1L3 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
266 58183609 DNASE1L3 NM_004944.4:c.643delT NP_004935.1:p.Trp215Glyfs*2 2 0.000838%
267 58191227 DNASE1L3 NM_004944.4:c.290_291delCA NP_004935.1:p.Thr97Ilefs*2 2 0.000838%