ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00465
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00003
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462 0.00002
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser) rs199473190 0.00001
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val) rs199473194 0.00001
NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu) rs1447666161 0.00001
NC_000003.11:g.(?_38589553)_(38674850_?)dup
NM_000335.5(SCN5A):c.2788-6C>G rs41260344
NM_000335.5(SCN5A):c.2890G>A (p.Ala964Thr) rs1553699796
NM_000335.5(SCN5A):c.2980G>A (p.Ala994Thr) rs1437826730
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp) rs1263123803
NM_000335.5(SCN5A):c.3004C>T (p.Pro1002Ser) rs750100874
NM_000335.5(SCN5A):c.3091G>A (p.Gly1031Ser) rs2471658106
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp) rs1430691171
NM_000335.5(SCN5A):c.3288G>C (p.Gln1096His) rs1430466268
NM_000335.5(SCN5A):c.3387+8A>C rs2125867452

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