ClinVar Miner

List of variants studied for myocardial disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (32):

Acute coronary syndrome
Acute myocardial infarction
Atrial conduction disease
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
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
Encephalitis; Episodic vomiting; Recurrent fever; Myocarditis
Facial hypertrichosis; Congenital laryngomalacia; Dystonic disorder; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormal muscle fiber morphology; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission
Familial sick sinus syndrome
Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly; Ventriculomegaly; Myocarditis
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Myocardial infarction
Myocardial infarction; Headache; Rigidity; Vertigo; Myotonia of the upper limb; EMG: myotonic discharges
Myocarditis
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome
Primary dilated cardiomyopathy; Myocarditis
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
Sinoatrial node disorder; Brugada syndrome; Cardiac arrest

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)	rs199473341	0.00011
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	rs199473072	0.00009
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)	rs199473147	0.00004
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)	rs745435760	0.00002
NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser)	rs753232371	0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)	rs45514691	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)	rs199473071	0.00001
NM_000335.5(SCN5A):c.2683C>T (p.Leu895Phe)
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)	rs199473175
NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter)
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser)	rs199473298
NM_002471.4(MYH6):c.1673T>G (p.Leu558Arg)

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