ClinVar Miner

List of variants studied for malignant migrating partial seizures of infancy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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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Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.2T>C (p.Met1Thr)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)	rs886041691
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	rs397515403
NM_020822.3(KCNT1):c.3001A>T (p.Thr1001Ser)	rs143780942

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