ClinVar Miner

List of variants in gene SCN10A reported as likely pathogenic for Brugada syndrome 1

Included ClinVar conditions (29):

Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome
Atrial fibrillation; Brugada syndrome
Atrial fibrillation; Brugada syndrome; Congestive heart failure; Hypertrophic cardiomyopathy
Brugada syndrome
Brugada syndrome 1
Brugada syndrome 1; Dilated cardiomyopathy 1E
Brugada syndrome 1; Long QT syndrome 3
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome
Brugada syndrome 1; Ventricular fibrillation, paroxysmal familial, type 1
Brugada syndrome; Congenital long QT syndrome
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy
Brugada syndrome; Premature ventricular contraction
Brugada syndrome; Supraventricular tachycardia; Ventricular tachycardia
Cardiomyopathy; Brugada syndrome
Long QT syndrome 3; Brugada syndrome
Long QT syndrome; Brugada syndrome
Primary dilated cardiomyopathy; Brugada syndrome
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome
SUDDEN INFANT DEATH SYNDROME; Brugada syndrome
Sinoatrial node disorder; Brugada syndrome; Cardiac arrest

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)	rs202192818	0.00028
NM_006514.4(SCN10A):c.4201_4203del (p.Phe1401del)	rs1559414131

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