ClinVar Miner

List of variants in gene SCN5A reported as likely benign for Brugada syndrome

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.2598G>A (p.Ser866=) rs371173851 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000335.5(SCN5A):c.4590C>T (p.Asp1530=) rs372507927 0.00005
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=) rs45570333 0.00004
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000335.5(SCN5A):c.2496C>T (p.Ile832=) rs761287478 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.2745C>T (p.Cys915=) rs372782494 0.00003
NM_000335.5(SCN5A):c.2787+10C>T rs1030956093 0.00003
NM_000335.5(SCN5A):c.482+10T>G rs762598150 0.00003
NM_000335.5(SCN5A):c.1764T>C (p.His588=) rs775985491 0.00002
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=) rs368167264 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=) rs587781162 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.3984C>T (p.Gly1328=) rs761384669 0.00002
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=) rs397517954 0.00002
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=) rs727505094 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.5763G>A (p.Lys1921=) rs760280154 0.00002
NM_000335.5(SCN5A):c.5952C>T (p.Ser1984=) rs1005750243 0.00002
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=) rs747600514 0.00001
NM_000335.5(SCN5A):c.1891-5C>T rs749081972 0.00001
NM_000335.5(SCN5A):c.1927C>T (p.Leu643=) rs878855286 0.00001
NM_000335.5(SCN5A):c.3388-4A>G rs1224411450 0.00001
NM_000335.5(SCN5A):c.3495C>T (p.Asp1165=) rs1358339064 0.00001
NM_000335.5(SCN5A):c.3534T>C (p.Cys1178=) rs771226633 0.00001
NM_000335.5(SCN5A):c.360C>T (p.Ile120=) rs587781158 0.00001
NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=) rs367927086 0.00001
NM_000335.5(SCN5A):c.4806C>T (p.Ile1602=) rs769709544 0.00001
NM_000335.5(SCN5A):c.5019T>C (p.Phe1673=) rs1174642559 0.00001
NM_000335.5(SCN5A):c.5034C>T (p.Phe1678=) rs867169736 0.00001
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=) rs758998714 0.00001
NM_000335.5(SCN5A):c.54G>A (p.Arg18=) rs1285580985 0.00001
NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=) rs758289489 0.00001
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=) rs199687668 0.00001
NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=) rs754276826 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.72C>T (p.Ile24=) rs727503412 0.00001
NM_000335.5(SCN5A):c.840C>T (p.Cys280=) rs72549413 0.00001
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.1167C>T (p.Tyr389=) rs794728854
NM_000335.5(SCN5A):c.1173C>A (p.Ile391=) rs961251585
NM_000335.5(SCN5A):c.141C>G (p.Pro47=) rs571894716
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.1710C>G (p.Thr570=) rs1060504150
NM_000335.5(SCN5A):c.1728C>G (p.Pro576=) rs1575800832
NM_000335.5(SCN5A):c.1728C>T (p.Pro576=) rs1575800832
NM_000335.5(SCN5A):c.1812G>T (p.Leu604=) rs1575800407
NM_000335.5(SCN5A):c.1863T>C (p.Pro621=) rs1575800173
NM_000335.5(SCN5A):c.2352C>T (p.Phe784=) rs1418584830
NM_000335.5(SCN5A):c.2781C>T (p.Asn927=) rs762246339
NM_000335.5(SCN5A):c.342C>T (p.Leu114=) rs879094574
NM_000335.5(SCN5A):c.3609C>T (p.His1203=) rs767617297
NM_000335.5(SCN5A):c.3624A>T (p.Thr1208=) rs1575748730
NM_000335.5(SCN5A):c.3627C>T (p.Phe1209=) rs962909965
NM_000335.5(SCN5A):c.3630C>T (p.Ile1210=) rs1267986781
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.4044C>T (p.Ser1348=) rs1575725164
NM_000335.5(SCN5A):c.4242+8C>T rs878855290
NM_000335.5(SCN5A):c.4296+9C>A rs572950088
NM_000335.5(SCN5A):c.4308G>A (p.Gln1436=) rs1575718543
NM_000335.5(SCN5A):c.4500G>T (p.Leu1500=) rs767615184
NM_000335.5(SCN5A):c.4614C>T (p.Cys1538=) rs1227371604
NM_000335.5(SCN5A):c.4638G>T (p.Val1546=) rs878855291
NM_000335.5(SCN5A):c.4695C>T (p.Leu1565=) rs727505094
NM_000335.5(SCN5A):c.4743G>C (p.Leu1581=) rs1575711581
NM_000335.5(SCN5A):c.5163C>T (p.Asn1721=) rs1575705969
NM_000335.5(SCN5A):c.5361G>A (p.Glu1787=) rs1575705184
NM_000335.5(SCN5A):c.5472C>T (p.Leu1824=) rs1253336819
NM_000335.5(SCN5A):c.5529T>C (p.Ser1843=) rs1575704476
NM_000335.5(SCN5A):c.5541C>T (p.Ile1847=) rs1575704426
NM_000335.5(SCN5A):c.576A>G (p.Pro192=) rs1227394755
NM_000335.5(SCN5A):c.5823T>G (p.Pro1941=) rs2125824674
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.5910T>C (p.Thr1970=) rs972777761
NM_000335.5(SCN5A):c.681G>A (p.Leu227=) rs369623575
NM_000335.5(SCN5A):c.726C>T (p.Ala242=) rs746812420

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