Gene TMEM67 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: TMEM67
Disorder: Nephronophthisis 11
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 TMEM67 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 774 |
94777802 |
TMEM67 |
NM_153704.6:c.579_580delAG |
NP_714915.3:p.Gly195Ilefs*13 |
1 |
0.000419% |
| 775 |
94792831 |
TMEM67 |
NM_153704.5:c.725A>G |
p.Asn242Ser |
1 |
0.000419% |
| 776 |
94798481 |
TMEM67 |
NM_153704.6:c.1319G>A |
NP_714915.3:p.Arg440Gln |
1 |
0.000419% |
| 777 |
94815880 |
TMEM67 |
NM_153704.6:c.2290C>T |
NP_714915.3:p.Arg764Ter |
1 |
0.000419% |
