ClinVar Miner

List of variants reported as uncertain significance 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)	rs41311117	0.00192
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)	rs45489199	0.00109
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys)	rs199473048	0.00006
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile)	rs770087869	0.00002
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)	rs779687673	0.00001
NM_000335.5(SCN5A):c.422T>A (p.Ile141Asn)	rs772186966	0.00001
NM_006514.4(SCN10A):c.3971C>T (p.Ser1324Leu)	rs756046052	0.00001
NM_017636.4(TRPM4):c.923C>T (p.Ala308Val)	rs747192078	0.00001
NM_000335.5(SCN5A):c.2213A>C (p.His738Pro)	rs1135401948
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp)	rs199473068
NM_006514.4(SCN10A):c.1534C>G (p.Arg512Gly)	rs200714519
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)	rs878855029
NM_017636.4(TRPM4):c.1873+3G>T	rs779988026

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