MIR6501
Basic information
Region (hg38): 21:33550662-33550728
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 MIR6501 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 MIR6501
This is a list of pathogenic ClinVar variants found in the MIR6501 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
21-33550665-G-T | Uncertain significance (Jun 30, 2023) | |||
21-33550668-G-A | Likely benign (Sep 13, 2023) | |||
21-33550677-G-A | Likely benign (Feb 24, 2024) | |||
21-33550678-C-T | Uncertain significance (Jun 14, 2023) | |||
21-33550683-G-T | Likely benign (Oct 22, 2024) | |||
21-33550684-G-A | Uncertain significance (Jan 11, 2022) | |||
21-33550688-C-T | Likely benign (Feb 12, 2024) | |||
21-33550696-G-A | Uncertain significance (Aug 04, 2023) | |||
21-33550696-G-T | SON-related disorder | Likely benign (Apr 22, 2024) | ||
21-33550698-A-G | Likely benign (Apr 03, 2024) | |||
21-33550717-GC-G | Pathogenic (Jan 12, 2018) | |||
21-33550718-C-A | Uncertain significance (Aug 20, 2019) | |||
21-33550718-C-T | Benign/Likely benign (Aug 31, 2024) | |||
21-33550719-G-A | Likely benign (Sep 01, 2024) | |||
21-33550724-C-A | SON-related disorder | Uncertain significance (Feb 05, 2024) | ||
21-33550726-G-C | Uncertain significance (Oct 04, 2023) | |||
21-33550729-G-T | Uncertain significance (Nov 11, 2024) |
GnomAD
Source:
dbNSFP
Source: