ClinVar Miner

List of variants studied for Brugada syndrome 1 by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

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
		ClinVar version:

Total variants: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter)	rs139849511	0.00108
NM_170741.4(KCNJ16):c.664C>T (p.Arg222Cys)	rs148765286	0.00052
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)	rs144781529	0.00039
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)	rs144850908	0.00005
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)	rs727504641	0.00003
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys)	rs1060500663	0.00002
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)	rs199473172	0.00001
NM_000335.5(SCN5A):c.4296+1G>A	rs2061175467	0.00001
NM_000335.5(SCN5A):c.4639G>A (p.Glu1547Lys)	rs199473271	0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser)	rs794728852	0.00001
NM_001038.6(SCNN1A):c.1486G>A (p.Val496Met)	rs200923755	0.00001
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)	rs756481791	0.00001
NM_000335.5(SCN5A):c.1234del (p.Val412fs)	rs2471763175
NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter)	rs1207394743
NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del)	rs2471677709
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys)	rs1575853007
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)	rs199473556
NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly)	rs2471575135
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser)	rs2061147191
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter)	rs199473620
NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)	rs72549413
NM_001148.6(ANK2):c.8899C>G (p.Pro2967Ala)	rs2505905528

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.