MIR6890
Basic information
Region (hg38): 3:49099854-49099914
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6890 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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in MIR6890
This is a list of pathogenic ClinVar variants found in the MIR6890 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-49099858-G-A | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (May 15, 2024) | ||
3-49099864-T-C | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (Aug 31, 2022) | ||
3-49099867-G-A | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (Apr 23, 2022) | ||
3-49099869-A-G | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (Apr 22, 2024) | ||
3-49099872-G-A | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (Jun 24, 2024) | ||
3-49099872-G-C | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (Nov 11, 2024) | ||
3-49099873-G-C | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | Likely benign (Oct 16, 2024) |
GnomAD
Source:
dbNSFP
Source: