ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A studied for Cardiovascular phenotype

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Total variants: 103
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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.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
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.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) rs759584454 0.00008
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 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.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 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.3232T>A (p.Ser1078Thr) rs376183542 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.3057G>A (p.Val1019=) rs372395429 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.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.3003G>C (p.Leu1001=) rs758064769 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.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
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.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.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.2826C>T (p.Phe942=) rs766950305 0.00001
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu) rs762818132 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2912G>A (p.Arg971His) rs749651069 0.00001
NM_000335.5(SCN5A):c.2953C>T (p.Leu985=) rs374855182 0.00001
NM_000335.5(SCN5A):c.2970G>A (p.Gln990=) rs771130219 0.00001
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr) rs770088052 0.00001
NM_000335.5(SCN5A):c.3006C>G (p.Pro1002=) rs1553699716 0.00001
NM_000335.5(SCN5A):c.3020C>T (p.Thr1007Ile) rs763935970 0.00001
NM_000335.5(SCN5A):c.3054G>A (p.Lys1018=) rs1240436658 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.3168A>C (p.Thr1056=) rs45480800 0.00001
NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=) rs886039126 0.00001
NM_000335.5(SCN5A):c.3267G>A (p.Pro1089=) rs752999955 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.3365C>T (p.Pro1122Leu) rs1447666161 0.00001
NM_000335.5(SCN5A):c.2788-2del
NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs)
NM_000335.5(SCN5A):c.2822C>G (p.Ser941Cys) rs1296243690
NM_000335.5(SCN5A):c.2841C>G (p.Leu947=)
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.2866A>G (p.Met956Val)
NM_000335.5(SCN5A):c.2871C>T (p.Asn957=)
NM_000335.5(SCN5A):c.2881C>G (p.Leu961Val)
NM_000335.5(SCN5A):c.2883G>T (p.Leu961=)
NM_000335.5(SCN5A):c.2952C>T (p.Leu984=)
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp) rs1263123803
NM_000335.5(SCN5A):c.2996G>A (p.Gly999Asp)
NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter)
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del) rs748297358
NM_000335.5(SCN5A):c.3012C>T (p.Cys1004=) rs1231333214
NM_000335.5(SCN5A):c.3022C>G (p.Pro1008Ala)
NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=) rs764425131
NM_000335.5(SCN5A):c.3036A>T (p.Pro1012=)
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro) rs199473592
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys) rs1064797003
NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)
NM_000335.5(SCN5A):c.3109G>A (p.Gly1037Ser)
NM_000335.5(SCN5A):c.3111C>T (p.Gly1037=) rs1057521031
NM_000335.5(SCN5A):c.3120G>C (p.Gly1040=)
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del) rs779953279
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del) rs758282196
NM_000335.5(SCN5A):c.3210G>A (p.Glu1070=)
NM_000335.5(SCN5A):c.3211G>A (p.Glu1071Lys)
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn) rs1553699582
NM_000335.5(SCN5A):c.3235C>G (p.Gln1079Glu)
NM_000335.5(SCN5A):c.3240T>C (p.Pro1080=) rs2125867954
NM_000335.5(SCN5A):c.3246C>G (p.Ser1082=) rs111422496
NM_000335.5(SCN5A):c.3254C>T (p.Pro1085Leu) rs2061541054
NM_000335.5(SCN5A):c.3259del (p.Ala1087fs) rs1553699292
NM_000335.5(SCN5A):c.3265C>A (p.Pro1089Thr) rs1553699286
NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter)
NM_000335.5(SCN5A):c.3282G>C (p.Trp1094Cys) rs759924541
NM_000335.5(SCN5A):c.3289G>A (p.Val1097Met) rs199473191
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706
NM_000335.5(SCN5A):c.3339C>A (p.Asp1113Glu)
NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter)
NM_000335.5(SCN5A):c.3387+5T>C rs2125867460

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