ClinVar Miner

List of variants reported as uncertain significance for migraine disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	rs121918799	0.00159
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	rs142885240	0.00091
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)	rs201827489	0.00022
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	rs267606904	0.00015
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)	rs121918619	0.00006
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)	rs137854608	0.00004
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)	rs768048563	0.00003
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)	rs2054687187	0.00002
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)	rs201748668	0.00001
NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	rs1413580671	0.00001
NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe)	rs1651725395
NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val)	rs1651907492
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)	rs2058520816
NM_001127222.2(CACNA1A):c.1555+3_1555+6del	rs2058143459
NM_001127222.2(CACNA1A):c.3692+1G>A	rs1315533129
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)	rs779292782
NM_001127222.2(CACNA1A):c.4089+18T>G	rs1600198282
NM_001165963.4(SCN1A):c.2177-10_2177-9insA	rs1553543440
NM_001382567.1(STIM1):c.1627T>A (p.Ser543Thr)	rs1554971682
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)	rs1553403624
NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	rs757962437

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