ClinVar Miner

List of variants in gene ST3GAL3 studied for infancy electroclinical syndrome

Included ClinVar conditions (46):

Angelman syndrome; Developmental and epileptic encephalopathy, 2
Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures 1; Developmental and epileptic encephalopathy, 11; Intellectual disability
Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 15
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1; Congenital disorder of glycosylation
Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; Partington syndrome
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 30
Developmental and epileptic encephalopathy, 40
Developmental and epileptic encephalopathy, 4; West syndrome; Cerebellar vermis hypoplasia
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 5; Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia; Developmental delay with or without epilepsy
Generalized epilepsy with febrile seizures plus, type 1; Developmental and epileptic encephalopathy, 1; Atrial fibrillation, familial, 1; Brugada syndrome 5
Infantile spasms
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus
Seizures, benign familial infantile, 5
West syndrome
West syndrome; Early infantile epileptic encephalopathy with suppression bursts
West syndrome; Lennox-Gastaut syndrome
West syndrome; Tubulinopathy-associated dysgyria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006279.5(ST3GAL3):c.1038+15A>G	rs3120803	0.84897
NM_006279.5(ST3GAL3):c.1039-18C>T	rs2108202	0.59490
NM_006279.5(ST3GAL3):c.209+9925A>G	rs37458	0.32581
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)	rs553120567	0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)	rs201287443	0.00027
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)	rs201834329	0.00013
NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile)	rs758155830	0.00005
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)	rs141947405	0.00004
NM_006279.5(ST3GAL3):c.166+1G>A	rs148531289	0.00002
NM_006279.5(ST3GAL3):c.303-9A>G	rs762536905	0.00001
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln)	rs780826701	0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys)	rs1448699021	0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)	rs1195818093	0.00001
NM_006279.5(ST3GAL3):c.-31+9631T>C	rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His)	rs2082916829
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn)	rs1365012948
NM_006279.5(ST3GAL3):c.397+2T>C	rs200255759
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)	rs745451424
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter)	rs201204481
NM_006279.5(ST3GAL3):c.891+1del	rs1387140766
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro)	rs1557563410

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