ClinVar Miner

List of variants studied for progressive myoclonic epilepsy with dystonia by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (6):

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, 16
Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16
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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)	rs749994791	0.00002
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)	rs765965968
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	rs397514713

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