ClinVar Miner

List of variants studied for migraine disorder by OMIM

Included ClinVar conditions (40):

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
Cognitive impairment; Cerebral atrophy; Memory impairment; Hypoplasia of the corpus callosum; Migraine with aura; Increased CSF lactate; Increased serum pyruvate
Depression; Migraine with aura; Stroke disorder
Elevated circulating creatine kinase concentration; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-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
Ischemic stroke; Migraine; Atypical behavior; Cognitive impairment; Depression; Migraine with aura; Abnormal cerebral white matter morphology
Migraine
Migraine with aura
Migraine with aura; Abnormal cerebral white matter morphology
Migraine without aura; Stroke disorder
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
Migraine; Atrial septal defect, ostium secundum type; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Migraine; Constipation; Abnormal blistering of the skin; Abnormal urinary color
Migraine; Dystonic disorder; Seizure; Hypertonia; Ventriculomegaly; Developmental regression; Attention deficit hyperactivity disorder
Migraine; Hereditary episodic ataxia
Migraine; Memory impairment; Muscle spasm; EMG: neuropathic changes; EMG: myotonic runs; Limb pain
Migraine; Myopathy; Muscle weakness; Abnormality of the musculature; Myalgia; Exercise-induced myalgia; Increased muscle glycogen content
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma
Migraine; Short stature; High palate; Hypotension; Malar flattening; Abnormal facial shape; Thin skin; Mitral valve prolapse; Pain
Migraine; Transient ischemic attack; Tension-type headache; Abnormal brain morphology
Primary dilated cardiomyopathy; Migraine; Hemiplegia
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Early infantile epileptic encephalopathy with suppression bursts
Sporadic hemiplegic migraine

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

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)	rs121918619	0.00006
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)	rs121918618	0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)	rs121918614	0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)	rs121918617	0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	rs121918632	0.00001
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del
NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala)	rs121918613
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)	rs121918620
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln)	rs28933401
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)	rs28933400
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro)	rs28933398
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg)	rs28933399
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	rs2101996488
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)	rs121918615
NM_000702.4(ATP1A2):c.571G>A (p.Val191Met)	rs869025341
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg)	rs121918612
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)	rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu)	rs121908218
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	rs121908230
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys)	rs121908219
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)	rs121908237
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)	rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)	rs121908225
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)	rs121918633

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