ClinVar Miner

List of variants in gene KCNE3 studied for Brugada syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_005472.5(KCNE3):c.198T>C (p.Phe66=) rs2270676 0.12227
NM_005472.5(KCNE3):c.-244G>A rs114110954 0.00488
NM_005472.5(KCNE3):c.-245A>G rs115848768 0.00488
NM_005472.5(KCNE3):c.116C>G (p.Pro39Arg) rs34604640 0.00014
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile) rs139040374 0.00012
NM_005472.5(KCNE3):c.158G>A (p.Arg53His) rs565287436 0.00010
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu) rs141880803 0.00006
NM_005472.5(KCNE3):c.228C>T (p.Ile76=) rs17221826 0.00006
NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys) rs542842233 0.00005
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) rs765329541 0.00004
NM_005472.5(KCNE3):c.304A>G (p.Met102Val) rs556647231 0.00003
NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp) rs755300564 0.00003
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln) rs745645715 0.00003
NM_005472.5(KCNE3):c.20C>T (p.Thr7Met) rs547194943 0.00002
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys) rs763157740 0.00002
NM_005472.5(KCNE3):c.263G>A (p.Arg88His) rs17221833 0.00002
NM_005472.5(KCNE3):c.48C>T (p.Ala16=) rs930193305 0.00002
NM_005472.5(KCNE3):c.49G>A (p.Val17Met) rs773287275 0.00002
NM_005472.5(KCNE3):c.*38G>A rs764717543 0.00001
NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu) rs757172223 0.00001
NM_005472.5(KCNE3):c.150A>T (p.Leu50=) rs772767562 0.00001
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr) rs1485350191 0.00001
NM_005472.5(KCNE3):c.21G>A (p.Thr7=) rs201582585 0.00001
NM_005472.5(KCNE3):c.222C>G (p.Ser74Arg) rs760938276 0.00001
NM_005472.5(KCNE3):c.237C>T (p.Tyr79=) rs768106696 0.00001
NM_005472.5(KCNE3):c.67G>C (p.Ala23Pro) rs759641427 0.00001
NM_005472.5(KCNE3):c.*1073AT[17] rs113583236
NM_005472.5(KCNE3):c.*1073AT[19] rs113583236
NM_005472.5(KCNE3):c.*1073AT[9] rs113583236
NM_005472.5(KCNE3):c.*1514_*1515dup rs41315535
NM_005472.5(KCNE3):c.*1515dup rs41315535
NM_005472.5(KCNE3):c.*909_*910del rs757362085
NM_005472.5(KCNE3):c.*919_*922dup rs60016728
NM_005472.5(KCNE3):c.*920_*922dup rs60016728
NM_005472.5(KCNE3):c.*923_*924insTTT rs886048651
NM_005472.5(KCNE3):c.103C>T (p.Pro35Ser)
NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu)
NM_005472.5(KCNE3):c.134A>C (p.Glu45Ala) rs764834315
NM_005472.5(KCNE3):c.138G>A (p.Arg46=)
NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly)
NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp)
NM_005472.5(KCNE3):c.140G>A (p.Arg47Gln)
NM_005472.5(KCNE3):c.157C>T (p.Arg53Cys)
NM_005472.5(KCNE3):c.158G>T (p.Arg53Leu) rs565287436
NM_005472.5(KCNE3):c.159T>C (p.Arg53=) rs2135003784
NM_005472.5(KCNE3):c.173A>G (p.Tyr58Cys)
NM_005472.5(KCNE3):c.175A>C (p.Met59Leu) rs1555108630
NM_005472.5(KCNE3):c.195G>A (p.Met65Ile)
NM_005472.5(KCNE3):c.215T>G (p.Val72Gly) rs202036216
NM_005472.5(KCNE3):c.22G>T (p.Glu8Ter)
NM_005472.5(KCNE3):c.242G>A (p.Arg81His)
NM_005472.5(KCNE3):c.247C>T (p.Arg83Cys)
NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro) rs17215437
NM_005472.5(KCNE3):c.254T>C (p.Val85Ala)
NM_005472.5(KCNE3):c.25A>G (p.Thr9Ala) rs2135004508
NM_005472.5(KCNE3):c.278_279del (p.His93fs)
NM_005472.5(KCNE3):c.279T>A (p.His93Gln) rs199972628
NM_005472.5(KCNE3):c.279T>C (p.His93=) rs199972628
NM_005472.5(KCNE3):c.27C>G (p.Thr9=)
NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)
NM_005472.5(KCNE3):c.310T>C (p.Ter104Gln) rs141695803
NM_005472.5(KCNE3):c.35A>G (p.Glu12Gly) rs2135004460
NM_005472.5(KCNE3):c.40C>A (p.Leu14Met)
NM_005472.5(KCNE3):c.46G>A (p.Ala16Thr)
NM_005472.5(KCNE3):c.52C>T (p.Leu18=)
NM_005472.5(KCNE3):c.69del (p.Thr24fs) rs547172459
NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser)
NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr)

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