MIR302CHG

miR-302/367 cluster host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 4:112646476-112706894

Links

ENSG00000249532 ∙ NCBI:109864269 ∙ ∙ HGNC:41070 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR302CHG gene.

• not provided (17 variants)
• Microcephalic primordial dwarfism, Alazami type (10 variants)
• LARP7-related disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR302CHG 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	25	10	37	31	5	108
Total	25	10	37	31	5

Highest pathogenic variant AF is 0.0000592

Variants in MIR302CHG

This is a list of pathogenic ClinVar variants found in the MIR302CHG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-112646589-T-A			Uncertain significance (Jun 09, 2022)
4-112646597-G-A			Uncertain significance (Jul 29, 2022)
4-112646599-A-G		LARP7-related disorder	Likely benign (Jun 08, 2022)
4-112646602-C-T			Likely benign (May 23, 2024)
4-112646604-C-T		not specified • Microcephalic primordial dwarfism, Alazami type	Conflicting classifications of pathogenicity (Jan 22, 2025)
4-112646612-C-T			Likely pathogenic (Feb 16, 2017)
4-112646619-A-G		Inborn genetic diseases	Uncertain significance (Jul 10, 2024)
4-112646639-C-T		Inborn genetic diseases	Uncertain significance (Jan 22, 2024)
4-112646645-G-C			Uncertain significance (May 16, 2022)
4-112646647-T-C			Likely benign (Mar 30, 2022)
4-112646658-GCA-G			Pathogenic (Dec 01, 2023)
4-112646661-C-G		Inborn genetic diseases	Uncertain significance (Nov 10, 2024)
4-112646670-T-C		Inborn genetic diseases	Uncertain significance (Jun 30, 2024)
4-112646676-G-C			Uncertain significance (Oct 29, 2024)
4-112646677-C-CA			Likely benign (Jun 30, 2022)
4-112646678-T-C			Likely benign (Jun 30, 2022)
4-112646680-A-G			Likely benign (Jun 30, 2022)
4-112646681-A-G			Likely benign (Jun 30, 2022)
4-112646687-C-T			Likely benign (Dec 16, 2023)
4-112646751-G-A		Microcephalic primordial dwarfism, Alazami type	Uncertain significance (Oct 19, 2021)
4-112646771-T-G			Likely benign (May 13, 2023)
4-112646775-T-C			Likely benign (May 23, 2024)
4-112646781-T-A			Likely benign (Dec 26, 2024)
4-112646782-TTA-T			Likely benign (Oct 17, 2023)
4-112646784-A-G			Likely benign (Aug 30, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP