ClinVar Miner

List of variants studied for Global developmental delay; Expressive language delay; Seizure; Failure to thrive; Growth delay; Nystagmus; Strabismus; Developmental regression; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; EEG with generalized epileptiform discharges; Hypotonia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786

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