ClinVar Miner

List of variants reported as uncertain significance for progressive familial heart block, type 1A by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (5):

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; 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
Progressive familial heart block, type 1A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)	rs199473341	0.00011
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.2683C>T (p.Leu895Phe)

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