ClinVar Miner

List of variants in gene KCNJ8 reported as uncertain significance for Brugada syndrome 1

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) rs117808169 0.00021
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00017
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His) rs149127157 0.00009
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln) rs747622709 0.00005
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln) rs142014286 0.00002
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile) rs770087869 0.00002
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys) rs781083385 0.00002
NC_000012.12:g.21765840C>T rs763595700 0.00001
NC_000012.12:g.21766292G>A rs2540720877 0.00001
NC_000012.12:g.21766528G>A rs761519173 0.00001
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp) rs556299317 0.00001
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg) rs752063865 0.00001
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser) rs368674776 0.00001
NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser) rs1286367742 0.00001
NM_004982.4(KCNJ8):c.2dup (p.Met1fs) rs1475364374 0.00001
NM_004982.4(KCNJ8):c.583C>T (p.Arg195Cys) rs1940624368 0.00001
NM_004982.4(KCNJ8):c.584G>A (p.Arg195His) rs779171376 0.00001
NM_004982.4(KCNJ8):c.601G>A (p.Val201Ile) rs750317966 0.00001
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys) rs763650307 0.00001
NM_004982.4(KCNJ8):c.701C>T (p.Thr234Ile) rs369660507 0.00001
NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu) rs773726063 0.00001
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val) rs1235054283 0.00001
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp) rs1468266637 0.00001
NM_004982.4(KCNJ8):c.76C>T (p.Arg26Cys) rs1341531219 0.00001
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met) rs933438680 0.00001
NM_004982.4(KCNJ8):c.94C>T (p.Pro32Ser) rs2137052056 0.00001
NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys) rs764215606 0.00001
NC_000012.12:g.21765761T>C rs1198878252
NC_000012.12:g.21765802C>A rs142014286
NC_000012.12:g.21765806T>C rs2540720066
NC_000012.12:g.21766002TTC[1] rs746995714
NC_000012.12:g.21766013T>C rs775816433
NC_000012.12:g.21766555A>G rs2540721157
NC_000012.12:g.21773274_21773288del rs1182931691
NC_000012.12:g.21773321C>G rs777762871
NC_000012.12:g.21773450A>G rs2540728490
NC_000012.12:g.21773586C>A rs2540728870
NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu) rs747622709
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln) rs754575556
NM_004982.4(KCNJ8):c.1070A>G (p.Glu357Gly) rs1591883003
NM_004982.4(KCNJ8):c.112G>T (p.Ala38Ser) rs1555172510
NM_004982.4(KCNJ8):c.1148G>A (p.Arg383His) rs764730358
NM_004982.4(KCNJ8):c.1156A>C (p.Met386Leu) rs912055698
NM_004982.4(KCNJ8):c.1176G>A (p.Met392Ile) rs1940604697
NM_004982.4(KCNJ8):c.1179_1196dup (p.Ile398_Ser403dup) rs2137047060
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser) rs730880120
NM_004982.4(KCNJ8):c.1218G>A (p.Met406Ile) rs1591882812
NM_004982.4(KCNJ8):c.1232A>C (p.Gln411Pro) rs1940602689
NM_004982.4(KCNJ8):c.1236T>G (p.Phe412Leu) rs754525019
NM_004982.4(KCNJ8):c.1243_1244del (p.Pro415fs)
NM_004982.4(KCNJ8):c.137C>T (p.Ala46Val) rs1565662161
NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe) rs2540728451
NM_004982.4(KCNJ8):c.265A>G (p.Ile89Val) rs1940805818
NM_004982.4(KCNJ8):c.290C>A (p.Ala97Asp) rs1940805358
NM_004982.4(KCNJ8):c.328A>C (p.Met110Leu)
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser) rs770087869
NM_004982.4(KCNJ8):c.381C>G (p.Phe127Leu)
NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr) rs776266885
NM_004982.4(KCNJ8):c.586C>T (p.His196Tyr)
NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala) rs2540720955
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala) rs146747000
NM_004982.4(KCNJ8):c.71_79dup (p.Lys24_Arg26dup) rs1447944616
NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr) rs2540720810
NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu) rs1940616222
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro) rs768851540
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser) rs749697322
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys) rs749697322
NM_004982.4(KCNJ8):c.914T>A (p.Ile305Asn)
NM_004982.4(KCNJ8):c.941T>C (p.Ile314Thr) rs2540720449
NM_004982.4(KCNJ8):c.953T>G (p.Ile318Ser)
NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu) rs2540720428
NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr) rs1940609307

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