SNX10-AS1
Basic information
Region (hg38): 7:26369310-26399541
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNX10-AS1 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 | 21 | 10 | 36 | |||
Total | 1 | 0 | 21 | 10 | 4 |
Highest pathogenic variant AF is 0.0000132
Variants in SNX10-AS1
This is a list of pathogenic ClinVar variants found in the SNX10-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-26371803-CT-C | Benign (Jan 14, 2025) | |||
7-26371803-C-CT | SNX10-related disorder | Benign (Jan 27, 2025) | ||
7-26371813-T-A | Benign (Feb 03, 2025) | |||
7-26371814-A-T | Likely benign (Sep 08, 2023) | |||
7-26371815-A-T | Likely benign (Jun 19, 2017) | |||
7-26371828-C-A | Uncertain significance (Jul 31, 2022) | |||
7-26371829-A-G | Inborn genetic diseases | Uncertain significance (Sep 08, 2024) | ||
7-26371843-C-A | Uncertain significance (May 06, 2022) | |||
7-26371847-C-G | Pathogenic (Nov 18, 2024) | |||
7-26371848-A-G | Benign (Feb 01, 2025) | |||
7-26371849-G-A | Uncertain significance (Oct 10, 2021) | |||
7-26371863-C-T | Likely benign (Dec 19, 2023) | |||
7-26371891-G-C | Uncertain significance (Jan 20, 2022) | |||
7-26371896-C-T | Likely benign (Jan 04, 2024) | |||
7-26371904-C-T | Uncertain significance (Jul 04, 2022) | |||
7-26371905-G-A | Likely benign (Oct 23, 2024) | |||
7-26371907-G-A | Autosomal recessive osteopetrosis 8 | Uncertain significance (Dec 29, 2023) | ||
7-26371915-G-T | Uncertain significance (Dec 26, 2023) | |||
7-26371920-G-C | Uncertain significance (Mar 03, 2023) | |||
7-26371922-C-T | Uncertain significance (Jul 22, 2022) | |||
7-26371929-C-T | Likely benign (Sep 03, 2023) | |||
7-26371941-A-T | Inborn genetic diseases | Uncertain significance (Feb 09, 2025) | ||
7-26371952-A-C | Uncertain significance (Aug 24, 2023) | |||
7-26371967-A-G | Uncertain significance (Apr 09, 2022) | |||
7-26371968-T-C | Likely benign (Dec 18, 2024) |
GnomAD
Source:
dbNSFP
Source: