ClinVar Miner

List of variants reported as pathogenic for Brugada syndrome 1 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (25):

Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death
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; 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; 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; Congenital long QT syndrome
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy
Brugada syndrome; Premature ventricular contraction
Brugada syndrome; Sudden unexplained death
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; Sudden cardiac arrest

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)	rs199473565	0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)	rs28937318	0.00001
NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter)	rs199473579
NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)	rs199473172
NM_000335.5(SCN5A):c.2787+2T>A	rs2061653258
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs)	rs794728918
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)	rs199473556
NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter)	rs199473598
NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter)	rs587781159
NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter)	rs1559727990
NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter)	rs1553605932
NM_000335.5(SCN5A):c.611+1G>A	rs794728843

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