Gene MVK 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: MVK
Disorder: Hyper-IgD syndrome
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 MVK gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 186 |
110034320 |
MVK |
NM_000431.4:c.1129G>A |
NP_000422.1:p.Val377Ile |
2 |
0.000838% |
| 418 |
110023903 |
MVK |
NM_000431.4:c.604G>A |
NP_000422.1:p.Gly202Arg |
1 |
0.000419% |
| 419 |
110029106 |
MVK |
NM_000431.4:c.829C>T |
NP_000422.1:p.Arg277Cys |
1 |
0.000419% |
