ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported by GeneDx

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.3229-254G>C rs41312411 0.10727
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
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.3229-33G>A rs41313657 0.00346
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
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.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
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.3207G>A (p.Thr1069=) rs371686822 0.00008
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 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.3243G>A (p.Val1081=) rs41312407 0.00006
NM_000335.5(SCN5A):c.3336C>T (p.Ala1112=) rs373679015 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.3147C>T (p.Ile1049=) rs867787484 0.00004
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3033G>C (p.Pro1011=) rs764425131 0.00003
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) rs376734571 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3111C>A (p.Gly1037=) rs1057521031 0.00003
NM_000335.5(SCN5A):c.3156C>T (p.Ala1052=) rs748975536 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.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000335.5(SCN5A):c.2931C>G (p.Thr977=) rs780713625 0.00002
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 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.3132C>T (p.Pro1044=) rs547709944 0.00002
NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=) rs1405503955 0.00002
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu) rs762818132 0.00001
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825 0.00001
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) rs794728871 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=) rs886039126 0.00001
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=) rs727504924 0.00001
NM_000335.5(SCN5A):c.3273C>T (p.Ser1091=) rs1057520359 0.00001
NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys) rs759924541 0.00001
NM_000335.5(SCN5A):c.2788-15C>G rs1057522116
NM_000335.5(SCN5A):c.2788-2A>G rs794728859
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro) rs2061581608
NM_000335.5(SCN5A):c.2841C>T (p.Leu947=) rs2061580908
NM_000335.5(SCN5A):c.2848C>T (p.Pro950Ser) rs794728870
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.2973G>A (p.Lys991=) rs1064796576
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.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=) rs764425131
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys) rs1064797003
NM_000335.5(SCN5A):c.3112delinsCCC (p.Thr1038fs) rs794728915
NM_000335.5(SCN5A):c.3117C>T (p.Pro1039=) rs762151891
NM_000335.5(SCN5A):c.3119G>A (p.Gly1040Glu) rs2061571787
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp) rs1430691171
NM_000335.5(SCN5A):c.3159G>A (p.Glu1053=) rs775605367
NM_000335.5(SCN5A):c.3165_3170del (p.Thr1056_Asp1057del) rs2125870744
NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del) rs779953279
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3240T>C (p.Pro1080=) rs2125867954
NM_000335.5(SCN5A):c.3244del (p.Ser1082fs) rs1064795784
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706
NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.5(SCN5A):c.3377G>A (p.Gly1126Glu) rs1434672265

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