ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A studied for Brugada syndrome

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Total variants: 47
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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 0.00488
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3057G>A (p.Val1019=) rs372395429 0.00004
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000335.5(SCN5A):c.3004C>T (p.Pro1002Ser) rs750100874 0.00002
NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn) rs45491996 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.3382G>A (p.Gly1128Ser) rs879229776 0.00002
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp) rs1455337011 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.3168A>C (p.Thr1056=) rs45480800 0.00001
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=) rs727504924 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
NC_000003.11:g.(?_38616768)_(38651475_?)dup
NM_000335.5(SCN5A):c.2788-6C>G rs41260344
NM_000335.5(SCN5A):c.2804T>C (p.Leu935Pro) rs199473179
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.2820C>T (p.Ser940=) rs1418607202
NM_000335.5(SCN5A):c.2860del (p.Arg954fs) rs2061580394
NM_000335.5(SCN5A):c.2890G>A (p.Ala964Thr) rs1553699796
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His) rs199473181
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
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.3022C>T (p.Pro1008Ser) rs199473184
NM_000335.5(SCN5A):c.3091G>A (p.Gly1031Ser)
NM_000335.5(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) rs878855287
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp) rs1430691171
NM_000335.5(SCN5A):c.3164A>G (p.Asp1055Gly) rs199473593
NM_000335.5(SCN5A):c.3228+10C>A rs72549412
NM_000335.5(SCN5A):c.3233C>A (p.Ser1078Tyr) rs199473188
NM_000335.5(SCN5A):c.3235C>A (p.Gln1079Lys) rs2061541848
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3288G>C (p.Gln1096His)
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) rs7626962
NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.5(SCN5A):c.3387+8A>C rs2125867452

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