ClinVar Miner

List of variants studied for long QT syndrome 3 by New York Genome Center

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
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp)	rs3918389	0.00005
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)	rs199473069	0.00004
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)	rs371308670	0.00003
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)	rs780405533	0.00002
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	rs137854604	0.00001
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)	rs1553607597

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