ClinVar Miner

List of variants in gene TBR1 studied for EEG abnormality; Gait disturbance; Abnormal facial shape; Absent speech; Inflexible adherence to routines; Generalized hypotonia; Cortical dysplasia; Severe global developmental delay; Hypoplastic anterior commissure; Hypoplastic hippocampus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006593.4(TBR1):c.1652dup (p.Gln552fs)	rs1553511224

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