ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as uncertain significance for Brugada syndrome 1

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00005
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2889G>A (p.Leu963=) rs2061579328
NM_000335.5(SCN5A):c.2945G>A (p.Cys982Tyr) rs2061577593
NM_000335.5(SCN5A):c.3259G>T (p.Ala1087Ser) rs369704754
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706

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