MIR6774
Basic information
Region (hg38): 16:85918347-85918416
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6774 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in MIR6774
This is a list of pathogenic ClinVar variants found in the MIR6774 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-85918397-C-T | Immunodeficiency 32B;Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | Likely benign (Dec 14, 2022) | ||
16-85918398-G-A | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency;Immunodeficiency 32B | Benign (Jan 01, 2024) | ||
16-85918404-C-G | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency;Immunodeficiency 32B | Uncertain significance (Oct 05, 2023) | ||
16-85918406-C-T | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency;Immunodeficiency 32B | Likely benign (Feb 14, 2023) | ||
16-85918411-C-A | Immunodeficiency 32B;Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | Likely benign (May 21, 2023) | ||
16-85918417-C-T | Immunodeficiency 32B;Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency • Immunodeficiency 32B • not specified | Conflicting classifications of pathogenicity (Aug 01, 2024) |
GnomAD
Source:
dbNSFP
Source: