ClinVar Miner

List of variants reported as likely pathogenic for progressive familial heart block, type 1A by Fulgent Genetics, Fulgent Genetics

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

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	rs199473220	0.00003
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)	rs199473282	0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	rs137854604	0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	rs199473305	0.00001
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	rs137854609
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	rs199473055

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