ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as uncertain significance for not provided

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Total variants: 160
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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.3296C>T (p.Ala1099Val) rs199473192 0.00021
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) rs759584454 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186 0.00007
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu) rs369249772 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00005
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr) rs376183542 0.00005
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195 0.00005
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val) rs751938579 0.00005
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165 0.00004
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp) rs768691853 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.2948G>A (p.Gly983Asp) rs766096031 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3322A>G (p.Ser1108Gly) rs771989860 0.00003
NM_000335.5(SCN5A):c.3031C>T (p.Pro1011Ser) rs774357843 0.00002
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys) rs745435760 0.00002
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg) rs199473641 0.00002
NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn) rs45491996 0.00002
NM_000335.5(SCN5A):c.3242T>C (p.Val1081Ala) rs199473189 0.00002
NM_000335.5(SCN5A):c.2795A>G (p.Asn932Ser) rs2061582195 0.00001
NM_000335.5(SCN5A):c.2800T>C (p.Phe934Leu) rs2061582076 0.00001
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu) rs762818132 0.00001
NM_000335.5(SCN5A):c.2875C>T (p.Leu959Phe) rs1329499714 0.00001
NM_000335.5(SCN5A):c.2876T>C (p.Leu959Pro) rs1276970820 0.00001
NM_000335.5(SCN5A):c.2878C>A (p.Gln960Lys) rs199473590 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825 0.00001
NM_000335.5(SCN5A):c.2912G>A (p.Arg971His) rs749651069 0.00001
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp) rs41311135 0.00001
NM_000335.5(SCN5A):c.2935G>C (p.Asp979His) rs754467213 0.00001
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr) rs770088052 0.00001
NM_000335.5(SCN5A):c.3020C>T (p.Thr1007Ile) rs763935970 0.00001
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) rs794728871 0.00001
NM_000335.5(SCN5A):c.3096G>T (p.Glu1032Asp) rs376815707 0.00001
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met) rs527480102 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.3169G>A (p.Asp1057Asn) rs1432833848 0.00001
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe) rs199473188 0.00001
NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser) rs199473190 0.00001
NM_000335.5(SCN5A):c.3247G>C (p.Gly1083Arg) rs199473190 0.00001
NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys) rs759924541 0.00001
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr) rs1481582794 0.00001
NM_000335.5(SCN5A):c.3308C>A (p.Ser1103Tyr) rs2061539248 0.00001
NM_000335.5(SCN5A):c.2788-6C>A rs41260344
NM_000335.5(SCN5A):c.2796T>G (p.Asn932Lys) rs2125871972
NM_000335.5(SCN5A):c.2801T>C (p.Phe934Ser) rs2125871953
NM_000335.5(SCN5A):c.2803C>G (p.Leu935Val)
NM_000335.5(SCN5A):c.2807C>A (p.Ala936Asp)
NM_000335.5(SCN5A):c.2812C>G (p.Leu938Val)
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro) rs2061581608
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn) rs879123756
NM_000335.5(SCN5A):c.2821_2822delinsAT (p.Ser941Ile) rs137854605
NM_000335.5(SCN5A):c.2822C>T (p.Ser941Phe)
NM_000335.5(SCN5A):c.2835C>A (p.Asp945Glu) rs2061581068
NM_000335.5(SCN5A):c.2846C>A (p.Ala949Asp) rs794728869
NM_000335.5(SCN5A):c.2848C>T (p.Pro950Ser) rs794728870
NM_000335.5(SCN5A):c.2866A>T (p.Met956Leu)
NM_000335.5(SCN5A):c.2874C>A (p.Asn958Lys)
NM_000335.5(SCN5A):c.2891C>G (p.Ala964Gly) rs748091338
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His) rs199473181
NM_000335.5(SCN5A):c.2894G>T (p.Arg965Leu) rs199473181
NM_000335.5(SCN5A):c.2896A>G (p.Ile966Val) rs2061579030
NM_000335.5(SCN5A):c.2897T>A (p.Ile966Asn)
NM_000335.5(SCN5A):c.2921A>G (p.Lys974Arg) rs2061578242
NM_000335.5(SCN5A):c.2924G>C (p.Arg975Pro) rs753149586
NM_000335.5(SCN5A):c.2954T>C (p.Leu985Pro)
NM_000335.5(SCN5A):c.2965C>T (p.Pro989Ser)
NM_000335.5(SCN5A):c.2973G>A (p.Lys991=) rs1064796576
NM_000335.5(SCN5A):c.2974C>A (p.Pro992Thr) rs2125871447
NM_000335.5(SCN5A):c.2977G>T (p.Ala993Ser) rs770088052
NM_000335.5(SCN5A):c.2981C>T (p.Ala994Val)
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp) rs727503408
NM_000335.5(SCN5A):c.2993A>G (p.Gln998Arg) rs1553699721
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del) rs748297358
NM_000335.5(SCN5A):c.3007A>G (p.Ser1003Gly)
NM_000335.5(SCN5A):c.3014T>C (p.Ile1005Thr) rs761494684
NM_000335.5(SCN5A):c.3038C>G (p.Pro1013Arg) rs2125871240
NM_000335.5(SCN5A):c.3040C>A (p.Pro1014Thr) rs2125871233
NM_000335.5(SCN5A):c.3040C>T (p.Pro1014Ser)
NM_000335.5(SCN5A):c.3043G>A (p.Glu1015Lys)
NM_000335.5(SCN5A):c.3047C>A (p.Thr1016Lys)
NM_000335.5(SCN5A):c.3058C>T (p.Pro1020Ser) rs2061573726
NM_000335.5(SCN5A):c.3059C>T (p.Pro1020Leu)
NM_000335.5(SCN5A):c.3064A>G (p.Thr1022Ala) rs2061573532
NM_000335.5(SCN5A):c.3067C>G (p.Arg1023Gly)
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro) rs199473592
NM_000335.5(SCN5A):c.3073G>A (p.Glu1025Lys)
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys) rs1064797003
NM_000335.5(SCN5A):c.3088G>C (p.Glu1030Gln) rs1553699659
NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)
NM_000335.5(SCN5A):c.3107A>G (p.Gln1036Arg)
NM_000335.5(SCN5A):c.3119G>A (p.Gly1040Glu) rs2061571787
NM_000335.5(SCN5A):c.3121G>T (p.Asp1041Tyr) rs45491996
NM_000335.5(SCN5A):c.3124C>A (p.Pro1042Thr)
NM_000335.5(SCN5A):c.3127G>C (p.Glu1043Gln) rs1318798411
NM_000335.5(SCN5A):c.3131C>T (p.Pro1044Leu) rs267599788
NM_000335.5(SCN5A):c.3136T>C (p.Cys1046Arg)
NM_000335.5(SCN5A):c.3139G>C (p.Val1047Leu) rs2061571102
NM_000335.5(SCN5A):c.3139G>T (p.Val1047Leu) rs2061571102
NM_000335.5(SCN5A):c.3154G>T (p.Ala1052Ser) rs2061570437
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp) rs1430691171
NM_000335.5(SCN5A):c.3165_3170del (p.Thr1056_Asp1057del) rs2125870744
NM_000335.5(SCN5A):c.3166A>G (p.Thr1056Ala) rs1265143149
NM_000335.5(SCN5A):c.3173A>C (p.Asp1058Ala) rs942008930
NM_000335.5(SCN5A):c.3183A>C (p.Glu1061Asp) rs7430407
NM_000335.5(SCN5A):c.3186T>A (p.Asp1062Glu) rs2061569408
NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del) rs779953279
NM_000335.5(SCN5A):c.3200T>G (p.Leu1067Arg) rs1559751709
NM_000335.5(SCN5A):c.3206C>G (p.Thr1069Arg)
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del) rs758282196
NM_000335.5(SCN5A):c.3211G>A (p.Glu1071Lys)
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3221G>A (p.Ser1074Asn) rs2125870571
NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn) rs1553699582
NM_000335.5(SCN5A):c.3226C>A (p.Gln1076Lys) rs2125870559
NM_000335.5(SCN5A):c.3228+5G>T
NM_000335.5(SCN5A):c.3229-18C>T rs535600394
NM_000335.5(SCN5A):c.3229-6C>T rs1298844321
NM_000335.5(SCN5A):c.3231A>C (p.Glu1077Asp) rs2125867999
NM_000335.5(SCN5A):c.3235C>G (p.Gln1079Glu)
NM_000335.5(SCN5A):c.3238C>A (p.Pro1080Thr) rs1575757425
NM_000335.5(SCN5A):c.3238C>T (p.Pro1080Ser) rs1575757425
NM_000335.5(SCN5A):c.3239C>T (p.Pro1080Leu) rs2125867959
NM_000335.5(SCN5A):c.3245C>G (p.Ser1082Cys) rs780015717
NM_000335.5(SCN5A):c.3254C>T (p.Pro1085Leu) rs2061541054
NM_000335.5(SCN5A):c.3257A>C (p.Glu1086Ala)
NM_000335.5(SCN5A):c.3260C>A (p.Ala1087Asp)
NM_000335.5(SCN5A):c.3263C>T (p.Pro1088Leu)
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=) rs752999955
NM_000335.5(SCN5A):c.3286C>A (p.Gln1096Lys) rs2125867814
NM_000335.5(SCN5A):c.3289G>A (p.Val1097Met) rs199473191
NM_000335.5(SCN5A):c.3295G>A (p.Ala1099Thr) rs574531617
NM_000335.5(SCN5A):c.3302C>T (p.Ala1101Val) rs2125867757
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) rs7626962
NM_000335.5(SCN5A):c.3313G>T (p.Ala1105Ser) rs1243589369
NM_000335.5(SCN5A):c.3318G>C (p.Glu1106Asp)
NM_000335.5(SCN5A):c.3325G>A (p.Ala1109Thr)
NM_000335.5(SCN5A):c.3337G>T (p.Asp1113Tyr) rs199473195
NM_000335.5(SCN5A):c.3352T>C (p.Trp1118Arg)
NM_000335.5(SCN5A):c.3355A>G (p.Lys1119Glu) rs965297274
NM_000335.5(SCN5A):c.3356A>G (p.Lys1119Arg) rs2125867593
NM_000335.5(SCN5A):c.3364C>A (p.Pro1122Thr) rs1060501126
NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser) rs796070621
NM_000335.5(SCN5A):c.3371C>A (p.Ala1124Asp) rs730880206
NM_000335.5(SCN5A):c.3377G>A (p.Gly1126Glu) rs1434672265
NM_000335.5(SCN5A):c.3383G>A (p.Gly1128Asp) rs2125867484
NM_000335.5(SCN5A):c.3387+5T>C rs2125867460
NM_000335.5(SCN5A):c.3387+6G>C rs2125867456

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