ClinVar Miner

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

Included ClinVar conditions (25):
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Total variants: 61
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HGVS dbSNP
NC_000003.11:g.(?_38589553)_(38674850_?)dup
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.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.2890G>A (p.Ala964Thr) rs1553699796
NM_000335.4(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
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.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.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.3020C>T (p.Thr1007Ile)
NM_000335.4(SCN5A):c.3031C>T (p.Pro1011Ser)
NM_000335.4(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185
NM_000335.4(SCN5A):c.3067C>T (p.Arg1023Cys)
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.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.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.3133G>A (p.Val1045Met) rs527480102
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.3183A>C (p.Glu1061Asp)
NM_000335.4(SCN5A):c.3187_3189GAG[1] (p.Glu1064del) rs779953279
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.3208_3210GAG[2] (p.Glu1072del) rs758282196
NM_000335.4(SCN5A):c.3228+6C>G rs368048551
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.3245C>G (p.Ser1082Cys)
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.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.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.3381C>T (p.Cys1127=) rs561922849

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