ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
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.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter)
NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter)
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr)
NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser)
NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys)

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