ZNF470-DT
Basic information
Region (hg38): 19:56545566-56567479
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (21 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF470-DT 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 | 20 | 21 | ||||
Total | 0 | 0 | 20 | 1 | 0 |
Variants in ZNF470-DT
This is a list of pathogenic ClinVar variants found in the ZNF470-DT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-56547866-A-T | not specified | Uncertain significance (Aug 08, 2022) | ||
19-56549011-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
19-56549045-G-C | not specified | Uncertain significance (Apr 07, 2022) | ||
19-56549094-T-G | not specified | Uncertain significance (Sep 01, 2021) | ||
19-56549104-C-G | not specified | Uncertain significance (Jan 09, 2024) | ||
19-56549120-C-T | not specified | Uncertain significance (Jun 02, 2024) | ||
19-56550072-G-C | not specified | Uncertain significance (Feb 14, 2024) | ||
19-56550103-C-T | not specified | Uncertain significance (Sep 27, 2021) | ||
19-56550117-C-G | not specified | Uncertain significance (Nov 28, 2023) | ||
19-56553699-A-T | not specified | Uncertain significance (Aug 11, 2022) | ||
19-56553702-A-G | not specified | Uncertain significance (Dec 05, 2022) | ||
19-56553716-T-C | not specified | Uncertain significance (Apr 01, 2024) | ||
19-56553746-G-C | not specified | Uncertain significance (May 02, 2024) | ||
19-56553798-A-G | not specified | Uncertain significance (Oct 27, 2022) | ||
19-56553803-G-A | not specified | Uncertain significance (Aug 28, 2023) | ||
19-56553813-A-C | not specified | Uncertain significance (Sep 16, 2021) | ||
19-56553885-C-T | not specified | Uncertain significance (Dec 13, 2022) | ||
19-56553947-T-G | not specified | Uncertain significance (Aug 13, 2021) | ||
19-56553996-G-A | not specified | Likely benign (Jun 03, 2024) | ||
19-56554140-A-G | not specified | Uncertain significance (Apr 08, 2024) | ||
19-56554215-A-G | not specified | Uncertain significance (Aug 08, 2022) | ||
19-56554278-A-G | not specified | Uncertain significance (Feb 27, 2023) | ||
19-56554454-G-A | not specified | Uncertain significance (Jun 29, 2022) | ||
19-56554478-G-A | not specified | Uncertain significance (Jun 22, 2021) | ||
19-56554616-C-A | not specified | Uncertain significance (Jun 17, 2024) |
GnomAD
Source:
dbNSFP
Source: