ClinVar Miner

List of variants studied for Brugada syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

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
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	rs1805124	0.24768
NM_000335.5(SCN5A):c.1141-3C>A	rs41312433	0.16821
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)	rs45609733	0.00019
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)	rs542692632	0.00011
NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)	rs769799503	0.00003
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)	rs749864465	0.00001
NM_000335.5(SCN5A):c.2548G>A (p.Val850Met)	rs911293694	0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	rs199473305	0.00001
NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu)	rs373087176
NM_000335.5(SCN5A):c.2704A>T (p.Thr902Ser)
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	rs199473055
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)	rs199473204
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.5827_5830del (p.Glu1944fs)	rs2061010663

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