MIR6893
Basic information
Region (hg38): 8:144435551-144435619
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 MIR6893 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 MIR6893
This is a list of pathogenic ClinVar variants found in the MIR6893 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-144435552-T-C | Sponastrime dysplasia | Likely pathogenic (Apr 01, 2022) | ||
8-144435553-G-C | Uncertain significance (Jul 11, 2022) | |||
8-144435563-G-A | Likely benign (Apr 13, 2023) | |||
8-144435565-C-T | Likely benign (Oct 02, 2022) | |||
8-144435565-CAGCAGGGCTG-C | Likely benign (Aug 16, 2022) | |||
8-144435567-G-A | Likely benign (Oct 03, 2022) |
GnomAD
Source:
dbNSFP
Source: