ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.3692G>A (p.Arg1231Gln) rs199473206 0.00004
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met) rs527480102 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.1058C>G (p.Thr353Ser) rs199473096
NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) rs199473160
NM_000335.5(SCN5A):c.2803C>G (p.Leu935Val)
NM_000335.5(SCN5A):c.590A>G (p.Asp197Gly) rs1559370502
NM_000335.5(SCN5A):c.883G>A (p.Glu295Lys) rs762283891
NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTGT
NM_201596.3(CACNB2):c.1490G>T (p.Gly497Val)

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