ClinVar Miner

List of variants studied for familial hemiplegic migraine by GenomeConnect - Brain Gene Registry

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)	rs368347143	0.00006
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln)	rs745824475	0.00001
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)	rs1325697290	0.00001
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)	rs121918615
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)	rs1555755909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A	rs1315533129
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	rs2144773045
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)	rs757643322
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	rs775428832
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764

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