ClinVar Miner

List of variants studied for familial hemiplegic migraine by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (21):

Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Episodic ataxia type 2; Familial hemiplegic migraine; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Migraine, familial hemiplegic, 1
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
Familial hemiplegic migraine
Migraine, familial hemiplegic, 1
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant
Migraine, familial hemiplegic, 2
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood
Migraine, familial hemiplegic, 3
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Febrile seizures, familial, 1; Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Early infantile epileptic encephalopathy with suppression bursts

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	rs794726718
NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg)
NM_001165963.4(SCN1A):c.2946+2T>C
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)	rs794726825
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	rs121917995
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	rs794726739
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp)
NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn)

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