ClinVar Miner

List of variants studied for Liang-Wang syndrome by New York Genome Center

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.3147+6T>C	rs558650814	0.00001
NM_001161352.2(KCNMA1):c.1224-326G>C	rs2153793727
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu)	rs147369374
NM_001161352.2(KCNMA1):c.379-114292C>G	rs2154549804
NM_001161352.2(KCNMA1):c.379-51304del	rs2154521818

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