ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as uncertain significance for Cardiac arrhythmia

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) rs199473192 0.00021
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.3343C>T (p.Arg1115Trp) rs199473196 0.00006
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.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.3204C>T (p.Gly1068=) rs1464663200 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.3004C>T (p.Pro1002Ser) rs750100874 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.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.2795A>G (p.Asn932Ser) rs2061582195 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.3079C>T (p.Arg1027Trp) rs1455337011 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>C (p.Gly1083Arg) rs199473190 0.00001
NM_000335.5(SCN5A):c.3262C>G (p.Pro1088Ala) rs1036508155 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
NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly) rs730880206 0.00001
NM_000335.5(SCN5A):c.2788-14C>T rs2125872008
NM_000335.5(SCN5A):c.2788-15C>G rs1057522116
NM_000335.5(SCN5A):c.2807C>G (p.Ala936Gly)
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn) rs879123756
NM_000335.5(SCN5A):c.2839C>T (p.Leu947Phe)
NM_000335.5(SCN5A):c.2846C>T (p.Ala949Val) rs794728869
NM_000335.5(SCN5A):c.2854G>A (p.Glu952Lys) rs774178124
NM_000335.5(SCN5A):c.2858A>G (p.Asp953Gly)
NM_000335.5(SCN5A):c.2873A>G (p.Asn958Ser) rs2061579911
NM_000335.5(SCN5A):c.2891C>G (p.Ala964Gly) rs748091338
NM_000335.5(SCN5A):c.2893C>G (p.Arg965Gly)
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.2906G>T (p.Gly969Val) rs2061578758
NM_000335.5(SCN5A):c.2951T>C (p.Leu984Pro)
NM_000335.5(SCN5A):c.2954T>C (p.Leu985Pro)
NM_000335.5(SCN5A):c.2965C>G (p.Pro989Ala) rs2061576891
NM_000335.5(SCN5A):c.2977G>C (p.Ala993Pro)
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp) rs1263123803
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.2999_3001del (p.Gln1000del) rs748297358
NM_000335.5(SCN5A):c.3001C>G (p.Leu1001Val)
NM_000335.5(SCN5A):c.3013A>G (p.Ile1005Val)
NM_000335.5(SCN5A):c.3013A>T (p.Ile1005Phe)
NM_000335.5(SCN5A):c.3017C>A (p.Ala1006Asp) rs2125871315
NM_000335.5(SCN5A):c.3020C>A (p.Thr1007Asn)
NM_000335.5(SCN5A):c.3025T>G (p.Tyr1009Asp)
NM_000335.5(SCN5A):c.3040C>T (p.Pro1014Ser)
NM_000335.5(SCN5A):c.3045G>C (p.Glu1015Asp) rs2125871200
NM_000335.5(SCN5A):c.3056T>A (p.Val1019Glu)
NM_000335.5(SCN5A):c.3059C>T (p.Pro1020Leu)
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro) rs199473592
NM_000335.5(SCN5A):c.3068G>T (p.Arg1023Leu)
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys) rs1064797003
NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)
NM_000335.5(SCN5A):c.3122A>G (p.Asp1041Gly)
NM_000335.5(SCN5A):c.3128A>T (p.Glu1043Val)
NM_000335.5(SCN5A):c.3133G>C (p.Val1045Leu)
NM_000335.5(SCN5A):c.3145A>G (p.Ile1049Val) rs2125870856
NM_000335.5(SCN5A):c.3154G>A (p.Ala1052Thr) rs2061570437
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.3173A>C (p.Asp1058Ala) rs942008930
NM_000335.5(SCN5A):c.3186T>A (p.Asp1062Glu) rs2061569408
NM_000335.5(SCN5A):c.3187G>C (p.Glu1063Gln)
NM_000335.5(SCN5A):c.3193_3216dup (p.Glu1072_Ser1073insAsnSerLeuGlyThrGluGluGlu)
NM_000335.5(SCN5A):c.3196A>G (p.Ser1066Gly)
NM_000335.5(SCN5A):c.3203G>A (p.Gly1068Asp)
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del) rs758282196
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3215A>C (p.Glu1072Ala)
NM_000335.5(SCN5A):c.3215A>G (p.Glu1072Gly)
NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn) rs1553699582
NM_000335.5(SCN5A):c.3228+3G>A rs2125870553
NM_000335.5(SCN5A):c.3235C>A (p.Gln1079Lys) rs2061541848
NM_000335.5(SCN5A):c.3238C>T (p.Pro1080Ser) rs1575757425
NM_000335.5(SCN5A):c.3254C>A (p.Pro1085Gln)
NM_000335.5(SCN5A):c.3260C>T (p.Ala1087Val) rs778016632
NM_000335.5(SCN5A):c.3268G>T (p.Asp1090Tyr) rs1217355486
NM_000335.5(SCN5A):c.3288G>C (p.Gln1096His)
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.3319G>A (p.Ala1107Thr)
NM_000335.5(SCN5A):c.3332A>C (p.Gln1111Pro)
NM_000335.5(SCN5A):c.3339C>A (p.Asp1113Glu)
NM_000335.5(SCN5A):c.3347_3348delinsCC (p.Gln1116Pro) rs2125867623
NM_000335.5(SCN5A):c.3358G>A (p.Ala1120Thr) rs2061537897
NM_000335.5(SCN5A):c.3379T>A (p.Cys1127Ser) rs1179884443
NM_000335.5(SCN5A):c.3387G>A (p.Glu1129=) rs2061536796

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