MIR3936HG
Basic information
Region (hg38): 5:132311285-132370170
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Renal carnitine transport defect (15 variants)
- not provided (6 variants)
- Decreased circulating carnitine concentration (2 variants)
- SLC22A5-related disorder (2 variants)
- not specified (1 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR3936HG 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) | 2 | |||||
splice region | 0 | |||||
non coding | 15 | 29 | 121 | 85 | 32 | 282 |
Total | 15 | 29 | 123 | 85 | 32 |
Highest pathogenic variant AF is 0.00141
Variants in MIR3936HG
This is a list of pathogenic ClinVar variants found in the MIR3936HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-132312184-C-T | Likely benign (Oct 17, 2023) | |||
5-132312198-T-C | Uncertain significance (Aug 04, 2023) | |||
5-132312204-C-T | Uncertain significance (Sep 19, 2024) | |||
5-132312208-C-A | Benign (Oct 26, 2024) | |||
5-132312212-T-C | Uncertain significance (Apr 25, 2024) | |||
5-132312218-G-A | Uncertain significance (Oct 14, 2023) | |||
5-132312223-C-T | SLC22A4-related disorder | Likely benign (Jul 31, 2024) | ||
5-132312232-C-T | not specified • SLC22A4-related disorder | Benign (Nov 19, 2024) | ||
5-132312233-G-A | Uncertain significance (Oct 28, 2024) | |||
5-132312237-C-T | not specified | Uncertain significance (Nov 21, 2024) | ||
5-132312242-G-A | Uncertain significance (Oct 09, 2024) | |||
5-132312263-A-G | not specified | Uncertain significance (Oct 05, 2021) | ||
5-132312264-G-C | Uncertain significance (Nov 30, 2021) | |||
5-132313493-A-G | Benign (May 14, 2021) | |||
5-132313529-G-A | Benign (May 16, 2021) | |||
5-132313594-T-C | Benign (Nov 11, 2024) | |||
5-132313599-T-C | Likely benign (May 29, 2022) | |||
5-132313607-T-C | SLC22A4-related disorder | Benign (Jan 20, 2025) | ||
5-132313630-G-A | Uncertain significance (Oct 24, 2024) | |||
5-132313639-G-A | not specified | Uncertain significance (Dec 19, 2022) | ||
5-132313661-G-A | Uncertain significance (Oct 22, 2023) | |||
5-132313674-G-C | Likely benign (Nov 03, 2022) | |||
5-132313691-G-T | Uncertain significance (Nov 04, 2024) | |||
5-132313700-T-C | not specified | Uncertain significance (Jul 14, 2021) | ||
5-132313707-T-A | Likely benign (Aug 23, 2022) |
GnomAD
Source:
dbNSFP
Source: