ClinVar Miner

List of variants studied for long QT syndrome 3 by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)	rs137854610	0.00016
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	rs28937316	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn)	rs137854605
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	rs137854609
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)	rs28937317
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)	rs397514251
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)	rs137854600
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)	rs137854614
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp)	rs397514449
NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)	rs16991654

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