ClinVar Miner

List of variants in gene SCN5A reported as pathogenic for Brugada syndrome

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NC_000003.11:g.(?_38591802)_(38674808_?)del
NC_000003.11:g.(?_38606513)_(38627513_?)del
NC_000003.11:g.(?_38616768)_(38649725_?)del
NC_000003.11:g.(?_38627162)_(38627552_?)del
NC_000003.11:g.(?_38647422)_(38648321_?)del
NC_000003.11:g.(?_38655228)_(38663986_?)del
NC_000003.11:g.(?_38671792)_(38674808_?)del
NC_000003.11:g.(?_38674520)_(38674804_?)del
NC_000003.12:g.(?_38613743)_(38622489_?)del
NC_000003.12:g.(?_38633035)_(38633359_?)del
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.2742del (p.Leu914fs) rs2061654524
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs) rs2061229370
NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs) rs2125835486
NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) rs863224533
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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