ClinVar Miner

List of variants in gene combination DNM1, LOC130002699 reported as likely benign for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy

Included ClinVar conditions (14):

Autism spectrum disorder; Epilepsy with myoclonic atonic seizures
Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 31A
Developmental and epileptic encephalopathy, 31A; Developmental and epileptic encephalopathy, 31B
Developmental and epileptic encephalopathy, 43
Epilepsy with myoclonic atonic seizures
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia syndrome
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Intellectual disability; Benign neonatal seizures; Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
Macrocephaly and epileptic encephalopathy
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Epilepsy with myoclonic atonic seizures; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
West syndrome; Lennox-Gastaut syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004408.4(DNM1):c.2430G>A (p.Gly810=)	rs1007155416	0.00016
NM_004408.4(DNM1):c.2427G>T (p.Leu809=)	rs897409469	0.00003
NM_004408.4(DNM1):c.2418G>T (p.Gly806=)	rs1413872976	0.00001
NM_004408.4(DNM1):c.2427G>C (p.Leu809=)	rs897409469
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)	rs888747029
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
NM_004408.4(DNM1):c.2436G>T (p.Ala812=)
NM_004408.4(DNM1):c.2442C>G (p.Pro814=)
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
NM_004408.4(DNM1):c.2484T>A (p.Pro828=)	rs888550421

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