MIR762HG
Basic information
Region (hg38): 16:30875222-30895220
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (11 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR762HG 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 | 10 | 11 | ||||
Total | 0 | 0 | 10 | 1 | 0 |
Variants in MIR762HG
This is a list of pathogenic ClinVar variants found in the MIR762HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-30887876-G-A | not specified | Uncertain significance (May 30, 2024) | ||
16-30887902-G-T | not specified | Uncertain significance (Dec 21, 2022) | ||
16-30887917-G-A | not specified | Uncertain significance (Jun 01, 2023) | ||
16-30887984-C-T | not specified | Uncertain significance (Jun 06, 2023) | ||
16-30888857-C-G | not provided (-) | |||
16-30892603-C-T | not specified | Likely benign (Sep 06, 2022) | ||
16-30892606-G-C | not specified | Uncertain significance (Oct 28, 2024) | ||
16-30892606-G-T | not specified | Uncertain significance (Jun 13, 2023) | ||
16-30892639-G-A | not specified | Uncertain significance (Nov 08, 2024) | ||
16-30892720-G-A | not specified | Uncertain significance (Oct 12, 2021) | ||
16-30892747-T-C | not specified | Uncertain significance (Nov 14, 2024) | ||
16-30892869-C-G | not specified | Uncertain significance (May 03, 2023) | ||
16-30892896-C-T | not specified | Uncertain significance (Nov 05, 2021) | ||
16-30892900-G-A | not specified | Uncertain significance (Dec 21, 2023) | ||
16-30892932-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
16-30893274-T-C | not specified | Uncertain significance (May 10, 2023) | ||
16-30893872-T-C | not specified | Uncertain significance (Dec 05, 2022) |
GnomAD
Source:
dbNSFP
Source: