ClinVar Miner

List of variants studied for conduction system disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (20):

Atrial conduction disease
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
Conduction system disorder
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to
Familial sick sinus syndrome
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Progressive familial heart block, type 1A
Sick sinus syndrome
Sick sinus syndrome 1
Sick sinus syndrome 2, autosomal dominant
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18
Sick sinus syndrome 2, autosomal dominant; Epilepsy, idiopathic generalized, susceptibility to, 18
Sick sinus syndrome 3, susceptibility to
Sick sinus syndrome 4
Sinoatrial node disorder

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	rs41276525	0.00065
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)	rs137854609	0.00008
NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	rs1553704183
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)	rs199473161
NM_000335.5(SCN5A):c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle)	rs2061232746
NM_000335.5(SCN5A):c.5294T>A (p.Met1765Lys)	rs752476527
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp)	rs199473068
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)	rs577421914
NM_015978.3(TNNI3K):c.2205C>A (p.Asn735Lys)	rs199608014

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