ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome 5

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ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001037.5(SCN1B):c.-88A>C rs886054341 0.00022
NM_001037.5(SCN1B):c.448+345C>T rs754815235 0.00021
NM_001037.5(SCN1B):c.*50C>T rs925616600 0.00014
NM_001037.5(SCN1B):c.448+114C>G rs1159393836 0.00012
NM_001037.5(SCN1B):c.448+40G>A rs199685662 0.00011
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001037.5(SCN1B):c.-123A>T rs1034432673 0.00008
NM_001037.5(SCN1B):c.449-3C>A rs370937269 0.00007
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile) rs560827790 0.00006
NM_001037.5(SCN1B):c.448+144A>G rs763402433 0.00006
NM_001037.5(SCN1B):c.448+225C>T rs369588692 0.00006
NM_001037.5(SCN1B):c.448+334G>A rs766204907 0.00006
NM_001037.5(SCN1B):c.448+111C>T rs758654948 0.00005
NM_001037.5(SCN1B):c.-132C>G rs886054339 0.00004
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val) rs72552028 0.00004
NM_001037.5(SCN1B):c.268G>A (p.Val90Met) rs778461222 0.00004
NM_001037.5(SCN1B):c.448+333C>T rs946024438 0.00004
NM_001037.5(SCN1B):c.-93G>C rs886054340 0.00003
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) rs786205833 0.00003
NM_001037.5(SCN1B):c.448+30G>A rs369058711 0.00003
NM_001037.5(SCN1B):c.64G>A (p.Val22Met) rs745578106 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
NM_001037.5(SCN1B):c.*378G>A rs1462739595 0.00002
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.358G>A (p.Glu120Lys) rs772112038 0.00002
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile) rs754215948 0.00002
NM_001037.5(SCN1B):c.448+100G>T rs779658201 0.00002
NM_001037.5(SCN1B):c.448+159C>T rs774036126 0.00002
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474 0.00002
NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg) rs771386831 0.00002
NM_001037.5(SCN1B):c.585G>A (p.Glu195=) rs753271148 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 0.00002
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile) rs780958012 0.00002
NM_001037.5(SCN1B):c.636G>A (p.Thr212=) rs763715229 0.00002
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) rs201209882 0.00002
NM_001037.5(SCN1B):c.*305C>T rs950244470 0.00001
NM_001037.5(SCN1B):c.-31G>A rs776361009 0.00001
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys) rs757554677 0.00001
NM_001037.5(SCN1B):c.137G>T (p.Arg46Leu) rs1024702691 0.00001
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met) rs1064796847 0.00001
NM_001037.5(SCN1B):c.150C>T (p.Asn50=) rs147073518 0.00001
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys) rs774152936 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.207+6C>T rs771917643 0.00001
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys) rs746782800 0.00001
NM_001037.5(SCN1B):c.259G>A (p.Glu87Lys) rs121434627 0.00001
NM_001037.5(SCN1B):c.263G>A (p.Gly88Asp) rs2064227954 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.286C>T (p.Arg96Trp) rs368388359 0.00001
NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp) rs1313744180 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781 0.00001
NM_001037.5(SCN1B):c.379C>T (p.Leu127Phe) rs2064229215 0.00001
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys) rs1351632820 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys) rs1265232012 0.00001
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys) rs372630267 0.00001
NM_001037.5(SCN1B):c.448+103C>T rs372041274 0.00001
NM_001037.5(SCN1B):c.448+123C>T rs771174760 0.00001
NM_001037.5(SCN1B):c.448+124G>A rs367608185 0.00001
NM_001037.5(SCN1B):c.448+126G>T rs746419159 0.00001
NM_001037.5(SCN1B):c.448+127C>T rs770344365 0.00001
NM_001037.5(SCN1B):c.448+151C>A rs1060501167 0.00001
NM_001037.5(SCN1B):c.448+192C>T rs72558027 0.00001
NM_001037.5(SCN1B):c.448+199G>A rs946927516 0.00001
NM_001037.5(SCN1B):c.448+205del rs764848712 0.00001
NM_001037.5(SCN1B):c.448+226G>A rs757396314 0.00001
NM_001037.5(SCN1B):c.448+244A>T rs1191213109 0.00001
NM_001037.5(SCN1B):c.448+252C>T rs374235844 0.00001
NM_001037.5(SCN1B):c.448+270T>C rs1173518227 0.00001
NM_001037.5(SCN1B):c.448+295G>T rs786205828 0.00001
NM_001037.5(SCN1B):c.448+310T>C rs1230072181 0.00001
NM_001037.5(SCN1B):c.448+346G>A rs76302703 0.00001
NM_001037.5(SCN1B):c.448+354G>A rs752552401 0.00001
NM_001037.5(SCN1B):c.448+45G>A rs762453360 0.00001
NM_001037.5(SCN1B):c.448+7C>T rs748379474 0.00001
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr) rs1034016541 0.00001
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala) rs1487883672 0.00001
NM_001037.5(SCN1B):c.523G>A (p.Val175Met) rs776213428 0.00001
NM_001037.5(SCN1B):c.542G>A (p.Cys181Tyr) rs1173931729 0.00001
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp) rs749338180 0.00001
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro) rs765702440 0.00001
NM_001037.5(SCN1B):c.621C>T (p.Ser207=) rs1378669075 0.00001
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213 0.00001
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp) rs762553865 0.00001
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837 0.00001
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NC_000019.10:g.(?_35030801)_(35039721_?)del
NC_000019.9:g.(?_35521725)_(36643309_?)del
NM_001037.5(SCN1B):c.*464C>G rs72550264
NM_001037.5(SCN1B):c.*486C>T rs2064280155
NM_001037.5(SCN1B):c.*553C>T rs2064280962
NM_001037.5(SCN1B):c.-72G>A rs1568347863
NM_001037.5(SCN1B):c.109A>C (p.Lys37Gln)
NM_001037.5(SCN1B):c.122T>G (p.Ile41Ser) rs2064221304
NM_001037.5(SCN1B):c.125C>A (p.Ser42Tyr)
NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys) rs371646049
NM_001037.5(SCN1B):c.137G>A (p.Arg46His) rs1024702691
NM_001037.5(SCN1B):c.139A>G (p.Ser47Gly)
NM_001037.5(SCN1B):c.142G>A (p.Glu48Lys)
NM_001037.5(SCN1B):c.142G>C (p.Glu48Gln)
NM_001037.5(SCN1B):c.145A>T (p.Thr49Ser)
NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) rs1568348711
NM_001037.5(SCN1B):c.167A>G (p.Glu56Gly)
NM_001037.5(SCN1B):c.16G>C (p.Ala6Pro) rs1308862852
NM_001037.5(SCN1B):c.172A>C (p.Thr58Pro)
NM_001037.5(SCN1B):c.173C>G (p.Thr58Ser)
NM_001037.5(SCN1B):c.173C>T (p.Thr58Ile) rs2064221831
NM_001037.5(SCN1B):c.179G>A (p.Arg60His) rs2064221894
NM_001037.5(SCN1B):c.179G>T (p.Arg60Leu)
NM_001037.5(SCN1B):c.182A>G (p.Gln61Arg) rs2151746034
NM_001037.5(SCN1B):c.190A>G (p.Thr64Ala) rs2151746044
NM_001037.5(SCN1B):c.197A>G (p.Glu66Gly)
NM_001037.5(SCN1B):c.198G>T (p.Glu66Asp)
NM_001037.5(SCN1B):c.19T>A (p.Leu7Ile)
NM_001037.5(SCN1B):c.202G>C (p.Val68Leu)
NM_001037.5(SCN1B):c.209T>C (p.Ile70Thr) rs2064227259
NM_001037.5(SCN1B):c.212T>C (p.Leu71Pro) rs2064227283
NM_001037.5(SCN1B):c.215G>T (p.Arg72Leu) rs770751961
NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)
NM_001037.5(SCN1B):c.224A>G (p.Asn75Ser)
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu) rs786205832
NM_001037.5(SCN1B):c.239T>C (p.Leu80Pro)
NM_001037.5(SCN1B):c.249T>G (p.Asp83Glu)
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) rs1555720710
NM_001037.5(SCN1B):c.256T>C (p.Phe86Leu) rs1600364421
NM_001037.5(SCN1B):c.274T>C (p.Trp92Arg) rs2151746407
NM_001037.5(SCN1B):c.275G>C (p.Trp92Ser)
NM_001037.5(SCN1B):c.281G>T (p.Gly94Val) rs2151746413
NM_001037.5(SCN1B):c.284G>A (p.Ser95Asn) rs1173359846
NM_001037.5(SCN1B):c.284G>C (p.Ser95Thr)
NM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)
NM_001037.5(SCN1B):c.290G>A (p.Gly97Asp) rs2064228310
NM_001037.5(SCN1B):c.290G>C (p.Gly97Ala) rs2064228310
NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp) rs1555720384
NM_001037.5(SCN1B):c.310C>A (p.Leu104Met) rs1555720733
NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)
NM_001037.5(SCN1B):c.31G>A (p.Ala11Thr) rs2064208679
NM_001037.5(SCN1B):c.329A>G (p.Asn110Ser)
NM_001037.5(SCN1B):c.32C>T (p.Ala11Val)
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile) rs2064228638
NM_001037.5(SCN1B):c.335C>T (p.Thr112Ile)
NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys) rs1246786495
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.349G>A (p.Gly117Ser)
NM_001037.5(SCN1B):c.34G>A (p.Ala12Thr)
NM_001037.5(SCN1B):c.352G>A (p.Asp118Asn) rs761925369
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr) rs761925369
NM_001037.5(SCN1B):c.367G>T (p.Val123Phe) rs754215948
NM_001037.5(SCN1B):c.371A>G (p.Tyr124Cys)
NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu) rs759839781
NM_001037.5(SCN1B):c.389A>C (p.Glu130Ala)
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
NM_001037.5(SCN1B):c.39G>C (p.Leu13=)
NM_001037.5(SCN1B):c.40+6T>G
NM_001037.5(SCN1B):c.401ACA[1] (p.Asn135del) rs2064229476
NM_001037.5(SCN1B):c.404A>C (p.Asn135Thr)
NM_001037.5(SCN1B):c.412GTC[1] (p.Val139del) rs2064229655
NM_001037.5(SCN1B):c.415G>T (p.Val139Phe)
NM_001037.5(SCN1B):c.419AGA[3] (p.Lys141_Ile142insLys)
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala) rs2151745962
NM_001037.5(SCN1B):c.420G>C (p.Lys140Asn) rs2151746501
NM_001037.5(SCN1B):c.424A>G (p.Ile142Val)
NM_001037.5(SCN1B):c.430A>G (p.Ile144Val)
NM_001037.5(SCN1B):c.431T>C (p.Ile144Thr)
NM_001037.5(SCN1B):c.448+105G>C
NM_001037.5(SCN1B):c.448+106C>A rs2151746573
NM_001037.5(SCN1B):c.448+10G>C rs959703607
NM_001037.5(SCN1B):c.448+111C>A
NM_001037.5(SCN1B):c.448+111C>G
NM_001037.5(SCN1B):c.448+115C>T
NM_001037.5(SCN1B):c.448+117C>T rs2151746583
NM_001037.5(SCN1B):c.448+119_448+120delinsAA
NM_001037.5(SCN1B):c.448+120C>A
NM_001037.5(SCN1B):c.448+122G>C
NM_001037.5(SCN1B):c.448+129G>A
NM_001037.5(SCN1B):c.448+130A>G
NM_001037.5(SCN1B):c.448+135G>A
NM_001037.5(SCN1B):c.448+135G>T
NM_001037.5(SCN1B):c.448+135del rs761070541
NM_001037.5(SCN1B):c.448+135dup
NM_001037.5(SCN1B):c.448+136A>C
NM_001037.5(SCN1B):c.448+154G>A
NM_001037.5(SCN1B):c.448+169G>A
NM_001037.5(SCN1B):c.448+171C>A
NM_001037.5(SCN1B):c.448+174_448+175del rs2151746627
NM_001037.5(SCN1B):c.448+184C>A
NM_001037.5(SCN1B):c.448+187G>A rs2064231986
NM_001037.5(SCN1B):c.448+18T>C rs2064230229
NM_001037.5(SCN1B):c.448+198G>A rs2151746635
NM_001037.5(SCN1B):c.448+1G>A
NM_001037.5(SCN1B):c.448+201C>T rs2151746638
NM_001037.5(SCN1B):c.448+208T>C
NM_001037.5(SCN1B):c.448+210C>A
NM_001037.5(SCN1B):c.448+210C>T
NM_001037.5(SCN1B):c.448+213G>C rs2064232193
NM_001037.5(SCN1B):c.448+217C>T rs1085307597
NM_001037.5(SCN1B):c.448+219C>A
NM_001037.5(SCN1B):c.448+219C>T
NM_001037.5(SCN1B):c.448+219dup
NM_001037.5(SCN1B):c.448+231G>A rs1412614368
NM_001037.5(SCN1B):c.448+236C>G rs779470587
NM_001037.5(SCN1B):c.448+238G>C rs2064232510
NM_001037.5(SCN1B):c.448+256T>A
NM_001037.5(SCN1B):c.448+25T>C
NM_001037.5(SCN1B):c.448+262G>T
NM_001037.5(SCN1B):c.448+264A>G
NM_001037.5(SCN1B):c.448+266G>A rs2151746678
NM_001037.5(SCN1B):c.448+277G>T rs2064232777
NM_001037.5(SCN1B):c.448+280G>A
NM_001037.5(SCN1B):c.448+287_448+290del rs762523720
NM_001037.5(SCN1B):c.448+288T>C
NM_001037.5(SCN1B):c.448+295_448+296delinsAA rs2064232945
NM_001037.5(SCN1B):c.448+303del
NM_001037.5(SCN1B):c.448+316T>C rs2151746709
NM_001037.5(SCN1B):c.448+321G>C rs72558028
NM_001037.5(SCN1B):c.448+330A>G rs2151746720
NM_001037.5(SCN1B):c.448+336T>C
NM_001037.5(SCN1B):c.448+337G>T rs369032304
NM_001037.5(SCN1B):c.448+342T>A
NM_001037.5(SCN1B):c.448+346G>T
NM_001037.5(SCN1B):c.448+348G>T rs2064233650
NM_001037.5(SCN1B):c.448+357T>C
NM_001037.5(SCN1B):c.448+36C>T
NM_001037.5(SCN1B):c.448+39C>T rs373443526
NM_001037.5(SCN1B):c.448+4_448+12del rs1322172446
NM_001037.5(SCN1B):c.448+50A>T
NM_001037.5(SCN1B):c.448+51T>C
NM_001037.5(SCN1B):c.448+55G>C
NM_001037.5(SCN1B):c.448+61G>T rs1555720788
NM_001037.5(SCN1B):c.448+67A>G
NM_001037.5(SCN1B):c.448+68G>T rs2151746554
NM_001037.5(SCN1B):c.448+77C>A rs2064230789
NM_001037.5(SCN1B):c.448+7C>G rs748379474
NM_001037.5(SCN1B):c.448+82C>T
NM_001037.5(SCN1B):c.448+85G>T rs2064230859
NM_001037.5(SCN1B):c.448+90C>T rs781079912
NM_001037.5(SCN1B):c.448+97C>T
NM_001037.5(SCN1B):c.448G>T (p.Ala150Ser) rs1034016541
NM_001037.5(SCN1B):c.449-10G>A rs1049927697
NM_001037.5(SCN1B):c.449-3C>T rs370937269
NM_001037.5(SCN1B):c.449-5T>C
NM_001037.5(SCN1B):c.449-9C>A rs786205829
NM_001037.5(SCN1B):c.449C>T (p.Ala150Val) rs1131691415
NM_001037.5(SCN1B):c.455G>A (p.Arg152Lys) rs760072940
NM_001037.5(SCN1B):c.460A>G (p.Met154Val)
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr) rs1432198305
NM_001037.5(SCN1B):c.469A>T (p.Ile157Phe)
NM_001037.5(SCN1B):c.471C>A (p.Ile157=)
NM_001037.5(SCN1B):c.471C>G (p.Ile157Met) rs765269835
NM_001037.5(SCN1B):c.487A>G (p.Met163Val) rs767608329
NM_001037.5(SCN1B):c.489G>A (p.Met163Ile) rs2151748748
NM_001037.5(SCN1B):c.498C>T (p.Leu166=)
NM_001037.5(SCN1B):c.504G>A (p.Val168=)
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val) rs748491132
NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
NM_001037.5(SCN1B):c.514A>C (p.Ile172Leu)
NM_001037.5(SCN1B):c.517T>C (p.Trp173Arg)
NM_001037.5(SCN1B):c.520C>T (p.Leu174Phe)
NM_001037.5(SCN1B):c.527C>T (p.Ala176Val)
NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
NM_001037.5(SCN1B):c.549G>A (p.Lys183=)
NM_001037.5(SCN1B):c.555C>G (p.Ile185Met)
NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
NM_001037.5(SCN1B):c.563C>T (p.Ala188Val)
NM_001037.5(SCN1B):c.564C>T (p.Ala188=)
NM_001037.5(SCN1B):c.567G>A (p.Thr189=)
NM_001037.5(SCN1B):c.581A>G (p.Gln194Arg)
NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala) rs2151748815
NM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)
NM_001037.5(SCN1B):c.590+1G>A rs112767703
NM_001037.5(SCN1B):c.590+3G>T
NM_001037.5(SCN1B):c.590+8G>C
NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
NM_001037.5(SCN1B):c.591-12_606del
NM_001037.5(SCN1B):c.591-16G>C
NM_001037.5(SCN1B):c.591-2A>G rs2151749034
NM_001037.5(SCN1B):c.591-3C>T rs2151749033
NM_001037.5(SCN1B):c.591-5dup
NM_001037.5(SCN1B):c.591-8C>T
NM_001037.5(SCN1B):c.593C>A (p.Ser198Ter)
NM_001037.5(SCN1B):c.5G>T (p.Gly2Val)
NM_001037.5(SCN1B):c.611C>A (p.Thr204Asn) rs2151749048
NM_001037.5(SCN1B):c.611C>G (p.Thr204Ser)
NM_001037.5(SCN1B):c.615dup (p.Glu206Ter) rs1555721523
NM_001037.5(SCN1B):c.617A>G (p.Glu206Gly)
NM_001037.5(SCN1B):c.622A>C (p.Lys208Gln) rs2151749056
NM_001037.5(SCN1B):c.630C>G (p.Asn210Lys)
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
NM_001037.5(SCN1B):c.634A>C (p.Thr212Pro)
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
NM_001037.5(SCN1B):c.639C>T (p.Gly213=)
NM_001037.5(SCN1B):c.652G>A (p.Glu218Lys) rs1555721538
NM_001037.5(SCN1B):c.655T>C (p.Ter219Gln) rs2151749083
NM_001037.5(SCN1B):c.71T>A (p.Val24Glu)
NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)
NM_001037.5(SCN1B):c.82A>T (p.Thr28Ser)
NM_001037.5(SCN1B):c.89C>A (p.Ala30Asp)
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met) rs2151745336
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)
NM_001037.5(SCN1B):c.97G>A (p.Gly33Arg) rs2064221039
NM_001037.5(SCN1B):c.98G>T (p.Gly33Val) rs2151745999

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