ClinVar Miner

List of variants studied for malignant migrating partial seizures of infancy by Institute of Human Genetics, University of Leipzig Medical Center

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)	rs376712059	0.00002
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	rs397515405	0.00001
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu)	rs763585049	0.00001
NM_001199107.2(TBC1D24):c.1115C>A (p.Ser372Tyr)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser)	rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)	rs886041691
NM_020822.3(KCNT1):c.2390G>T (p.Gly797Val)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	rs200694691
NM_020822.3(KCNT1):c.2915T>A (p.Ile972Asn)

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