ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as pathogenic for Brugada syndrome

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Total variants: 7
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HGVS dbSNP
NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_001099404.1(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) rs878855287
NM_198056.2(SCN5A):c.2933G>A (p.Trp978Ter) rs1060501135
NM_198056.2(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_198056.2(SCN5A):c.3081del (p.Phe1028fs) rs1553699663
NM_198056.2(SCN5A):c.3247del (p.Ser1083fs) rs1064795784
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541

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