ClinVar Miner

List of variants in gene SCN5A reported as pathogenic for Brugada syndrome

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Gene type:
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Total variants: 52
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HGVS dbSNP
NC_000003.12:g.(?_38613743)_(38622489_?)del
NC_000003.12:g.(?_38633035)_(38633359_?)del
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_198056.2(SCN5A):c.102_103delCG (p.Gly35Leufs) rs1131691708
NM_198056.2(SCN5A):c.104delG (p.Gly35Alafs) rs1060501142
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_198056.2(SCN5A):c.1121G>A (p.Trp374Ter) rs1553704898
NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.1428_1431delCAAG (p.Ser476Argfs) rs794728906
NM_198056.2(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_198056.2(SCN5A):c.1753delC (p.His585Thrfs) rs794728910
NM_198056.2(SCN5A):c.1936delC (p.Gln646Argfs) rs727505158
NM_198056.2(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_198056.2(SCN5A):c.2103delG (p.Leu702Cysfs) rs794728911
NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_198056.2(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_198056.2(SCN5A):c.2533delG (p.Val845Cysfs) rs794728912
NM_198056.2(SCN5A):c.2550_2551dupGT (p.Phe851Cysfs) rs397514450
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_198056.2(SCN5A):c.2582_2583delTT (p.Phe861Trpfs) rs794728914
NM_198056.2(SCN5A):c.2636G>A (p.Trp879Ter) rs1060501114
NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) rs137854618
NM_198056.2(SCN5A):c.3840+1G>A rs1366120635
NM_198056.2(SCN5A):c.3876delC (p.Phe1293Leufs) rs1553695847
NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) rs199473225
NM_198056.2(SCN5A):c.3995delC (p.Pro1332Argfs) rs727504801
NM_198056.2(SCN5A):c.4147C>T (p.Gln1383Ter) rs1553695282
NM_198056.2(SCN5A):c.4182C>G (p.Tyr1394Ter) rs863224532
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4657delA (p.Ser1553Valfs)
NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) rs863225273
NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_198056.2(SCN5A):c.4845_4847delCTTinsGTA (p.Tyr1615Ter) rs863224533
NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) rs199473284
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.5227G>A (p.Gly1743Arg) rs199473305
NM_198056.2(SCN5A):c.5279T>G (p.Phe1760Cys)
NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) rs199473311
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5361_5364delTGAG (p.Ser1787Argfs)
NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys) rs137854614
NM_198056.2(SCN5A):c.5384_5385delAT (p.Tyr1795Terfs)
NM_198056.2(SCN5A):c.5386G>T (p.Glu1796Ter)
NM_198056.2(SCN5A):c.5428G>T (p.Glu1810Ter) rs1060501145
NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) rs757532106
NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_198056.2(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136

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