ClinVar Miner

List of variants reported as benign for episodic ataxia type 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):

Episodic ataxia type 2
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Familial hemiplegic migraine; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Gait ataxia; Epileptic encephalopathy
Episodic ataxia type 2; Migraine, familial hemiplegic, 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia 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_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)	rs16050	0.02098
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)	rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)	rs16054

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