ClinVar Miner

List of variants reported as uncertain significance for malignant migrating partial seizures of infancy by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (12):

DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65
DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy, 14
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5
Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 34
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14
Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16
Malignant migrating partial seizures of infancy
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)	rs200926225	0.00160
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser)	rs776176742	0.00001

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