ClinVar Miner

List of variants reported as likely pathogenic for Liang-Wang syndrome

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)	rs1554829003
NM_001161352.2(KCNMA1):c.1334+1G>T	rs2153792212
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu)	rs150678882

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