ClinVar Miner

List of variants in gene HCN4 reported as pathogenic for conduction system disorder

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)	rs794727637	0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)	rs104894485	0.00001
NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly)	rs1057519276
NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg)	rs121908411
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)	rs1057519275
NM_005477.3(HCN4):c.1631del (p.Pro544fs)	rs1057519015
NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs)	rs1057519274
NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg)	rs104894488

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