MIR31HG
Basic information
Region (hg38): 9:21364605-21591906
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (33 variants)
- not provided (9 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR31HG 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) | 1 | |||||
splice region | 0 | |||||
non coding | 29 | 41 | ||||
Total | 0 | 0 | 29 | 4 | 9 |
Variants in MIR31HG
This is a list of pathogenic ClinVar variants found in the MIR31HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-21367451-C-T | not specified | Uncertain significance (Jan 06, 2023) | ||
9-21367529-C-T | not specified | Uncertain significance (Oct 06, 2022) | ||
9-21367565-C-T | not specified | Likely benign (Apr 22, 2022) | ||
9-21367572-A-G | not specified | Uncertain significance (Jun 11, 2024) | ||
9-21367601-T-C | not specified | Uncertain significance (Apr 11, 2023) | ||
9-21367605-T-C | not specified | Uncertain significance (Sep 20, 2023) | ||
9-21367742-T-C | not specified | Uncertain significance (Sep 26, 2022) | ||
9-21367798-C-G | not specified | Uncertain significance (Dec 16, 2022) | ||
9-21367809-C-A | not specified | Uncertain significance (Oct 12, 2021) | ||
9-21367827-A-G | not specified | Uncertain significance (Oct 12, 2022) | ||
9-21367866-A-G | not specified | Uncertain significance (Feb 27, 2024) | ||
9-21367883-G-A | not specified | Uncertain significance (Nov 08, 2021) | ||
9-21367994-A-G | not specified | Uncertain significance (Jun 17, 2024) | ||
9-21384786-C-G | not specified | Uncertain significance (Aug 17, 2022) | ||
9-21384789-G-T | not specified | Uncertain significance (Nov 23, 2021) | ||
9-21384793-G-A | Benign (May 15, 2018) | |||
9-21384817-C-T | Benign (May 21, 2018) | |||
9-21384846-C-T | not specified | Uncertain significance (Oct 20, 2023) | ||
9-21384854-C-T | not specified | Uncertain significance (Apr 12, 2024) | ||
9-21384879-G-A | not specified | Uncertain significance (Jun 30, 2022) | ||
9-21384929-A-G | not specified | Uncertain significance (May 13, 2024) | ||
9-21384954-C-A | not specified | Uncertain significance (Nov 03, 2022) | ||
9-21384954-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
9-21384969-A-C | not specified | Uncertain significance (Mar 07, 2023) | ||
9-21385037-G-T | not specified | Uncertain significance (Jun 22, 2024) |
GnomAD
Source:
dbNSFP
Source: