Gene DUOX2 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: DUOX2
Disorder: Hypothyroidism
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the DUOX2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 468 |
45393426 |
DUOX2 |
NM_014080.5:c.2895_2898delGTTC |
NP_054799.4:p.Phe966Serfs*29 |
1 |
0.000419% |
| 469 |
45396564 |
DUOX2 |
NM_014080.5:c.2335-1G>C |
|
1 |
0.000419% |
| 470 |
45400357 |
DUOX2 |
NM_014080.5:c.1462G>A |
NP_054799.4:p.Gly488Arg |
1 |
0.000419% |
| 471 |
45402093 |
DUOX2 |
NM_014080.5:c.1126C>T |
NP_054799.4:p.Arg376Trp |
1 |
0.000419% |
| 472 |
45403695 |
DUOX2 |
NM_014080.5:c.602dupG |
NP_054799.4:p.Gln202Thrfs*99 |
1 |
0.000419% |
