ClinVar Miner

List of variants in gene KCNJ8 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: 66
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HGVS dbSNP gnomAD frequency
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) rs117808169 0.00019
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00018
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His) rs149127157 0.00010
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
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.601G>A (p.Val201Ile) rs750317966 0.00001
NM_004982.4(KCNJ8):c.636G>A (p.Val212=) rs1203539861 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.76C>T (p.Arg26Cys) rs1341531219 0.00001
NM_004982.4(KCNJ8):c.786G>A (p.Val262=) rs768927826 0.00001
NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys) rs764215606 0.00001
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu) rs747622709
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)
NM_004982.4(KCNJ8):c.1158G>A (p.Met386Ile)
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.1192A>G (p.Ile398Val)
NM_004982.4(KCNJ8):c.1196G>T (p.Arg399Leu)
NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser)
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)
NM_004982.4(KCNJ8):c.1237A>G (p.Met413Val)
NM_004982.4(KCNJ8):c.137C>T (p.Ala46Val) rs1565662161
NM_004982.4(KCNJ8):c.167T>C (p.Phe56Ser)
NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe)
NM_004982.4(KCNJ8):c.290C>A (p.Ala97Asp) rs1940805358
NM_004982.4(KCNJ8):c.296G>C (p.Gly99Ala)
NM_004982.4(KCNJ8):c.2dup (p.Met1fs)
NM_004982.4(KCNJ8):c.31G>T (p.Glu11Ter)
NM_004982.4(KCNJ8):c.334_348del (p.Lys112_Glu116del)
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser) rs770087869
NM_004982.4(KCNJ8):c.443T>C (p.Met148Thr)
NM_004982.4(KCNJ8):c.470C>T (p.Thr157Met)
NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr)
NM_004982.4(KCNJ8):c.583C>T (p.Arg195Cys) rs1940624368
NM_004982.4(KCNJ8):c.584G>A (p.Arg195His)
NM_004982.4(KCNJ8):c.591T>A (p.Ala197=) rs145490575
NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala)
NM_004982.4(KCNJ8):c.706C>T (p.Pro236Ser)
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.753T>G (p.Asp251Glu)
NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr)
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val) rs1235054283
NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu) rs1940616222
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
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.941T>C (p.Ile314Thr)
NM_004982.4(KCNJ8):c.94C>T (p.Pro32Ser) rs2137052056
NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu)
NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr) rs1940609307
NM_004982.4(KCNJ8):c.985A>G (p.Thr329Ala)
NM_004982.4(KCNJ8):c.992AAG[1] (p.Glu332del)

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