ClinVar Miner

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

Included ClinVar conditions (25):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NC_000003.11:g.(?_38589553)_(38674850_?)dup
NC_000003.11:g.(?_38616768)_(38651475_?)dup
NM_000335.4(SCN5A):c.2788-6C>T rs41260344
NM_000335.4(SCN5A):c.2804T>C (p.Leu935Pro) rs199473179
NM_000335.4(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.4(SCN5A):c.2846C>A (p.Ala949Asp) rs794728869
NM_000335.4(SCN5A):c.2859C>G (p.Asp953Glu) rs762818132
NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_000335.4(SCN5A):c.2875C>T (p.Leu959Phe) rs1329499714
NM_000335.4(SCN5A):c.2876T>C (p.Leu959Pro) rs1276970820
NM_000335.4(SCN5A):c.2878C>A (p.Gln960Lys) rs199473590
NM_000335.4(SCN5A):c.2886C>T (p.Ala962=) rs544057915
NM_000335.4(SCN5A):c.2890G>A (p.Ala964Thr) rs1553699796
NM_000335.4(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
NM_000335.4(SCN5A):c.2894G>A (p.Arg965His) rs199473181
NM_000335.4(SCN5A):c.2894G>T (p.Arg965Leu) rs199473181
NM_000335.4(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825
NM_000335.4(SCN5A):c.2912G>A (p.Arg971His)
NM_000335.4(SCN5A):c.2923C>T (p.Arg975Trp) rs41311135
NM_000335.4(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586
NM_000335.4(SCN5A):c.2931C>G (p.Thr977=) rs780713625
NM_000335.4(SCN5A):c.2933G>A (p.Trp978Ter) rs1060501135
NM_000335.4(SCN5A):c.2935G>C (p.Asp979His)
NM_000335.4(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182
NM_000335.4(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165
NM_000335.4(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667
NM_000335.4(SCN5A):c.2962C>T (p.Arg988Trp) rs768691853
NM_000335.4(SCN5A):c.2963G>A (p.Arg988Gln) rs759584454
NM_000335.4(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_000335.4(SCN5A):c.2976C>T (p.Pro992=) rs193922725
NM_000335.4(SCN5A):c.2977G>A (p.Ala993Thr) rs770088052
NM_000335.4(SCN5A):c.2988C>T (p.Ala996=) rs781529391
NM_000335.4(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609
NM_000335.4(SCN5A):c.2999_3001del (p.Gln1000del) rs748297358
NM_000335.4(SCN5A):c.3003G>C (p.Leu1001=) rs758064769
NM_000335.4(SCN5A):c.3006C>G (p.Pro1002=) rs1553699716
NM_000335.4(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.4(SCN5A):c.3020C>T (p.Thr1007Ile)
NM_000335.4(SCN5A):c.3031C>T (p.Pro1011Ser)
NM_000335.4(SCN5A):c.3033G>A (p.Pro1011=) rs764425131
NM_000335.4(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185
NM_000335.4(SCN5A):c.3048G>A (p.Thr1016=) rs376734571
NM_000335.4(SCN5A):c.3057G>A (p.Val1019=) rs372395429
NM_000335.4(SCN5A):c.3067C>T (p.Arg1023Cys)
NM_000335.4(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_000335.4(SCN5A):c.3079C>T (p.Arg1027Trp) rs1455337011
NM_000335.4(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399
NM_000335.4(SCN5A):c.3081del (p.Phe1028fs) rs1553699663
NM_000335.4(SCN5A):c.3093C>T (p.Gly1031=) rs755980331
NM_000335.4(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476
NM_000335.4(SCN5A):c.3098A>G (p.Gln1033Arg) rs199473641
NM_000335.4(SCN5A):c.3111C>T (p.Gly1037=)
NM_000335.4(SCN5A):c.3117C>T (p.Pro1039=) rs762151891
NM_000335.4(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186
NM_000335.4(SCN5A):c.3121G>A (p.Asp1041Asn) rs45491996
NM_000335.4(SCN5A):c.3127G>C (p.Glu1043Gln) rs1318798411
NM_000335.4(SCN5A):c.3132C>T (p.Pro1044=) rs547709944
NM_000335.4(SCN5A):c.3133G>A (p.Val1045Met) rs527480102
NM_000335.4(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) rs878855287
NM_000335.4(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470
NM_000335.4(SCN5A):c.3155C>A (p.Ala1052Asp) rs1430691171
NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_000335.4(SCN5A):c.3164A>G (p.Asp1055Gly) rs199473593
NM_000335.4(SCN5A):c.3168A>C (p.Thr1056=) rs45480800
NM_000335.4(SCN5A):c.3183A>C (p.Glu1061Asp)
NM_000335.4(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_000335.4(SCN5A):c.3187_3189GAG[1] (p.Glu1064del) rs779953279
NM_000335.4(SCN5A):c.3192G>A (p.Glu1064=) rs886039126
NM_000335.4(SCN5A):c.3204C>T (p.Gly1068=) rs1464663200
NM_000335.4(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187
NM_000335.4(SCN5A):c.3207G>A (p.Thr1069=) rs371686822
NM_000335.4(SCN5A):c.3208_3210GAG[2] (p.Glu1072del) rs758282196
NM_000335.4(SCN5A):c.3228+6C>G rs368048551
NM_000335.4(SCN5A):c.3233C>A (p.Ser1078Tyr) rs199473188
NM_000335.4(SCN5A):c.3233C>T (p.Ser1078Phe) rs199473188
NM_000335.4(SCN5A):c.3242T>C (p.Val1081Ala) rs199473189
NM_000335.4(SCN5A):c.3243G>A (p.Val1081=) rs41312407
NM_000335.4(SCN5A):c.3244del (p.Ser1082fs) rs1064795784
NM_000335.4(SCN5A):c.3245C>G (p.Ser1082Cys)
NM_000335.4(SCN5A):c.3246C>T (p.Ser1082=) rs111422496
NM_000335.4(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754
NM_000335.4(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125
NM_000335.4(SCN5A):c.3267G>A (p.Pro1089=) rs752999955
NM_000335.4(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.4(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191
NM_000335.4(SCN5A):c.3296C>T (p.Ala1099Val) rs199473192
NM_000335.4(SCN5A):c.3301G>A (p.Ala1101Thr) rs1481582794
NM_000335.4(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.4(SCN5A):c.3335C>T (p.Ala1112Val) rs199473194
NM_000335.4(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195
NM_000335.4(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196
NM_000335.4(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002
NM_000335.4(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.4(SCN5A):c.3359C>T (p.Ala1120Val)
NM_000335.4(SCN5A):c.3360G>A (p.Ala1120=) rs9858585
NM_000335.4(SCN5A):c.3364C>A (p.Pro1122Thr) rs1060501126
NM_000335.4(SCN5A):c.3371C>A (p.Ala1124Asp)
NM_000335.4(SCN5A):c.3375A>G (p.Pro1125=) rs372328054
NM_000335.4(SCN5A):c.3381C>T (p.Cys1127=) rs561922849

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