ClinVar Miner

List of variants studied for long QT syndrome 3 by KardioGenetik, Herz- und Diabeteszentrum NRW

Included ClinVar conditions (13):

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; 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
Long QT syndrome 3
Long QT syndrome 3/6, digenic
Long QT syndrome 3; Brugada syndrome
Long QT syndrome 3; Dilated cardiomyopathy 1E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	rs41276525	0.00065
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	0.00018
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met)	rs199473279	0.00003
NM_000335.5(SCN5A):c.2978C>T (p.Ala993Val)

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