ClinVar Miner

List of variants studied for Liang-Wang syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (4):

Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome
Liang-Wang syndrome

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_001161352.2(KCNMA1):c.3052G>T (p.Asp1018Tyr)

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