ClinVar Miner

List of variants studied for 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 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00022
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00011
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00002
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=) rs2061958215
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser) rs1169229420
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=) rs1375890695
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr) rs2471584016
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val) rs774917987
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980

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