ClinVar Miner

List of variants studied for malignant migrating partial seizures of infancy by Juno Genomics, Hangzhou Juno Genomics, Inc

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

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	rs773916549
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	rs761918906
NM_001199107.2(TBC1D24):c.469C>G (p.Arg157Gly)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)

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