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: 90
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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.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.1753del (p.His585fs) rs794728910
NM_000335.4(SCN5A):c.2103del (p.Leu702fs) rs794728911
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.2582_2583del (p.Phe861fs) rs794728914
NM_000335.4(SCN5A):c.3512_3513GT[1] (p.Val1172fs) rs794728919
NM_000335.4(SCN5A):c.3873del (p.Phe1292fs) rs1553695847
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.4654del (p.Ser1552fs) rs1559725687
NM_000335.4(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) rs863224533
NM_000335.4(SCN5A):c.5354_5357TGAG[1] (p.Ser1786fs) rs1559720961
NM_000335.4(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) rs1559720870
NM_000335.4(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.5(SCN5A):c.1103del (p.Leu368fs)
NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter)
NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs)
NM_000335.5(SCN5A):c.131del (p.Glu44fs)
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.2298dup (p.Lys767fs) rs1575773471
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2576del (p.Gln859fs)
NM_000335.5(SCN5A):c.2742del (p.Leu914fs)
NM_000335.5(SCN5A):c.3840_3841CT[2] (p.Leu1282fs)
NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs)
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs)
NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter)
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5378del (p.Phe1793fs)
NM_000335.5(SCN5A):c.5491del (p.Gln1831fs)
NM_000335.5(SCN5A):c.576del (p.Trp193fs)
NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter)
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer)
NM_198056.2(SCN5A):c.102_103del rs1131691708
NM_198056.2(SCN5A):c.104del (p.Gly35fs) 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.1135C>T (p.Gln379Ter) rs1553704878
NM_198056.2(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_198056.2(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_198056.2(SCN5A):c.2636G>A (p.Trp879Ter) rs1060501114
NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) rs199473172
NM_198056.2(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_198056.2(SCN5A):c.3573G>A (p.Trp1191Ter) rs1237724419
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.3946C>T (p.Arg1316Ter) rs1553695764
NM_198056.2(SCN5A):c.3974A>G (p.Asn1325Ser) rs28937317
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) rs199473225
NM_198056.2(SCN5A):c.3995_3999del (p.Pro1332fs) rs1553695398
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.4245+1G>C rs794728879
NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) rs863225273
NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) rs137854607
NM_198056.2(SCN5A):c.4813+3_4813+6dup
NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) rs137854613
NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln) rs137854600
NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) rs199473284
NM_198056.2(SCN5A):c.4894C>T (p.Arg1632Cys) rs878855292
NM_198056.2(SCN5A):c.4912C>T (p.Arg1638Ter) rs761505217
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) rs1559721331
NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) rs199473311
NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys) rs137854614
NM_198056.2(SCN5A):c.5386G>T (p.Glu1796Ter) rs1553692734
NM_198056.2(SCN5A):c.5417_5420del (p.Thr1806fs) rs1060501127
NM_198056.2(SCN5A):c.5428G>T (p.Glu1810Ter) rs1060501145
NM_198056.2(SCN5A):c.5464_5467del (p.Glu1823fs) rs794728924
NM_198056.2(SCN5A):c.5590G>T (p.Glu1864Ter) rs1060501129
NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_198056.2(SCN5A):c.845G>A (p.Arg282His) rs199473083
NM_198056.2(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136

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