ClinVar Miner

List of variants in gene combination LOC110121288, SCN10A reported as uncertain significance for Brugada syndrome

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr) rs200713724 0.00029
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys) rs143744796 0.00013
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met) rs560631745 0.00009
NM_006514.4(SCN10A):c.3340T>C (p.Cys1114Arg) rs771127702 0.00007
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala) rs186031413 0.00006
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His) rs200584416 0.00006
NM_006514.4(SCN10A):c.3439C>T (p.Arg1147Cys) rs373470651 0.00006
NM_006514.4(SCN10A):c.2936G>T (p.Gly979Val) rs559166014 0.00005
NM_006514.4(SCN10A):c.3178T>G (p.Ser1060Ala) rs750655728 0.00004
NM_006514.4(SCN10A):c.3061C>T (p.Gln1021Ter) rs751252167 0.00003
NM_006514.4(SCN10A):c.3151G>A (p.Gly1051Arg) rs374447261 0.00003
NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln) rs756848600 0.00003
NM_006514.4(SCN10A):c.2974A>G (p.Thr992Ala) rs765269419 0.00002
NM_006514.4(SCN10A):c.3070G>A (p.Val1024Met) rs201106879 0.00002
NM_006514.4(SCN10A):c.3157T>A (p.Ser1053Thr) rs962402134 0.00002
NM_006514.4(SCN10A):c.3191C>T (p.Thr1064Met) rs774803610 0.00002
NM_006514.4(SCN10A):c.3403T>C (p.Trp1135Arg) rs769714725 0.00002
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met) rs145568435 0.00002
NM_006514.4(SCN10A):c.2833C>T (p.Pro945Ser) rs372907454 0.00001
NM_006514.4(SCN10A):c.2852T>A (p.Leu951His) rs755728923 0.00001
NM_006514.4(SCN10A):c.2923C>T (p.Gln975Ter) rs755553717 0.00001
NM_006514.4(SCN10A):c.2935G>T (p.Gly979Cys) rs752287839 0.00001
NM_006514.4(SCN10A):c.2939C>T (p.Pro980Leu) rs751340142 0.00001
NM_006514.4(SCN10A):c.2965G>A (p.Ala989Thr) rs766280701 0.00001
NM_006514.4(SCN10A):c.2993C>T (p.Pro998Leu) rs775672433 0.00001
NM_006514.4(SCN10A):c.3000T>A (p.Ala1000=) rs778351672 0.00001
NM_006514.4(SCN10A):c.3087+2T>C rs765046340 0.00001
NM_006514.4(SCN10A):c.3114G>T (p.Arg1038Ser) rs773394234 0.00001
NM_006514.4(SCN10A):c.3130A>G (p.Thr1044Ala) rs147093541 0.00001
NM_006514.4(SCN10A):c.3214C>T (p.Gln1072Ter) rs1458693100 0.00001
NM_006514.4(SCN10A):c.3280C>A (p.Pro1094Thr) rs973127854 0.00001
NM_006514.4(SCN10A):c.3289A>C (p.Ile1097Leu) rs1397301108 0.00001
NM_006514.4(SCN10A):c.3328G>C (p.Glu1110Gln) rs201871493 0.00001
NM_006514.4(SCN10A):c.3374G>C (p.Cys1125Ser) rs1481868189 0.00001
NM_006514.4(SCN10A):c.3409G>A (p.Val1137Met) rs1278228854 0.00001
NM_006514.4(SCN10A):c.3421G>A (p.Val1141Met) rs112412281 0.00001
NM_006514.4(SCN10A):c.3476T>A (p.Ile1159Asn) rs777240104 0.00001
NM_006514.4(SCN10A):c.3479T>C (p.Phe1160Ser) rs2063398350 0.00001
NM_006514.4(SCN10A):c.2779G>T (p.Ala927Ser) rs774405519
NM_006514.4(SCN10A):c.2818C>A (p.Gln940Lys)
NM_006514.4(SCN10A):c.2830G>A (p.Glu944Lys)
NM_006514.4(SCN10A):c.2832G>T (p.Glu944Asp)
NM_006514.4(SCN10A):c.2842G>A (p.Val948Met) rs145694222
NM_006514.4(SCN10A):c.2850A>T (p.Lys950Asn) rs7374804
NM_006514.4(SCN10A):c.2854C>G (p.Pro952Ala) rs370880796
NM_006514.4(SCN10A):c.2855C>T (p.Pro952Leu) rs774315933
NM_006514.4(SCN10A):c.2863A>T (p.Ser955Cys) rs1674245596
NM_006514.4(SCN10A):c.2902del (p.Arg968fs) rs1553616744
NM_006514.4(SCN10A):c.2917G>A (p.Gly973Arg)
NM_006514.4(SCN10A):c.3002_3005del (p.Glu1001fs) rs2126001175
NM_006514.4(SCN10A):c.3016C>G (p.Leu1006Val) rs963394464
NM_006514.4(SCN10A):c.3038G>A (p.Gly1013Asp) rs1228092020
NM_006514.4(SCN10A):c.3056G>A (p.Ser1019Asn)
NM_006514.4(SCN10A):c.3077C>T (p.Pro1026Leu) rs2063457731
NM_006514.4(SCN10A):c.3088-4C>G
NM_006514.4(SCN10A):c.3095del (p.Gln1032fs)
NM_006514.4(SCN10A):c.3098T>A (p.Leu1033Gln) rs751664345
NM_006514.4(SCN10A):c.3116G>A (p.Cys1039Tyr) rs765623505
NM_006514.4(SCN10A):c.3116G>T (p.Cys1039Phe)
NM_006514.4(SCN10A):c.3134C>G (p.Pro1045Arg) rs2126000012
NM_006514.4(SCN10A):c.3140G>A (p.Ser1047Asn)
NM_006514.4(SCN10A):c.3140G>C (p.Ser1047Thr) rs771555935
NM_006514.4(SCN10A):c.3170T>G (p.Leu1057Arg) rs1559424975
NM_006514.4(SCN10A):c.3176C>T (p.Pro1059Leu)
NM_006514.4(SCN10A):c.3201T>A (p.Asp1067Glu)
NM_006514.4(SCN10A):c.3228+11C>A
NM_006514.4(SCN10A):c.3228+6T>A rs748066260
NM_006514.4(SCN10A):c.3230G>A (p.Gly1077Glu) rs1309415508
NM_006514.4(SCN10A):c.3233T>C (p.Val1078Ala)
NM_006514.4(SCN10A):c.3237C>A (p.Asp1079Glu) rs745921364
NM_006514.4(SCN10A):c.3256G>T (p.Gly1086Cys) rs755448967
NM_006514.4(SCN10A):c.3299A>G (p.Lys1100Arg) rs928529158
NM_006514.4(SCN10A):c.3347C>T (p.Thr1116Ile) rs778116360
NM_006514.4(SCN10A):c.3355T>A (p.Cys1119Ser) rs1450059546
NM_006514.4(SCN10A):c.3358A>C (p.Ile1120Leu)
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys) rs146965005
NM_006514.4(SCN10A):c.3362G>A (p.Arg1121His)
NM_006514.4(SCN10A):c.3386A>C (p.Asp1129Ala) rs1274496159
NM_006514.4(SCN10A):c.3481A>G (p.Met1161Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.