ClinVar Miner

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

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NC_000003.11:g.(?_38655234)_(38663980_?)del
NC_000003.11:g.(?_38674526)_(38674850_?)del
NM_000335.4(SCN5A):c.100_101CG[1] (p.Gly35fs) rs1131691708
NM_000335.4(SCN5A):c.104del (p.Gly35fs) rs1060501142
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_000335.4(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_000335.4(SCN5A):c.1121G>A (p.Trp374Ter) rs1553704898
NM_000335.4(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_000335.4(SCN5A):c.1135C>T (p.Gln379Ter)
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.4(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.4(SCN5A):c.1753del (p.His585fs) rs794728910
NM_000335.4(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.4(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.4(SCN5A):c.2103del (p.Leu702fs) rs794728911
NM_000335.4(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.4(SCN5A):c.2298dup (p.Lys767fs)
NM_000335.4(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.4(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.2548_2549GT[3] (p.Phe851fs) rs397514450
NM_000335.4(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.4(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.4(SCN5A):c.2636G>A (p.Trp879Ter) rs1060501114
NM_000335.4(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter)
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.4(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.4(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618
NM_000335.4(SCN5A):c.3837+1G>A rs1366120635
NM_000335.4(SCN5A):c.3873del (p.Phe1292fs) rs1553695847
NM_000335.4(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.4(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.4(SCN5A):c.4179C>G (p.Tyr1393Ter) rs863224532
NM_000335.4(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.4(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.4(SCN5A):c.435C>A (p.Cys145Ter)
NM_000335.4(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4654del (p.Ser1552fs) rs1559725687
NM_000335.4(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.4(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.4(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.4(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) rs863224533
NM_000335.4(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282
NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.4(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305
NM_000335.4(SCN5A):c.5276T>G (p.Phe1759Cys) rs1559721331
NM_000335.4(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.5354_5357TGAG[1] (p.Ser1786fs) rs1559720961
NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.4(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.4(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) rs1559720870
NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp) rs397514449
NM_000335.4(SCN5A):c.5383G>T (p.Glu1795Ter) rs1553692734
NM_000335.4(SCN5A):c.5425G>T (p.Glu1809Ter) rs1060501145
NM_000335.4(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.611+3_611+4dup rs397514252
NM_000335.4(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.845G>A (p.Arg282His) rs199473083
NM_000335.4(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]

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