ClinVar Miner

List of variants reported as pathogenic for Brugada syndrome

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_37493846)_(38991873_?)del
NC_000003.12:g.(?_37452365)_(38950372_?)del
NC_000003.12:g.(?_38550301)_(38794030_?)del
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.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_000335.4(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.4(SCN5A):c.3081del (p.Phe1028fs) rs1553699663
NM_000335.4(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) rs878855287
NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_000335.4(SCN5A):c.3512_3513GT[1] (p.Val1172fs) rs794728919
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.4(SCN5A):c.3873del (p.Phe1292fs) rs1553695847
NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.4(SCN5A):c.4187del (p.Lys1396fs) rs397514446
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.5380T>C (p.Tyr1794His) rs137854615
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.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
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.1963G>T (p.Glu655Ter)
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.2860del (p.Arg954fs)
NM_000335.5(SCN5A):c.2900del (p.Gln967fs)
NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs)
NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter) rs1575751854
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
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.4531C>T (p.Arg1511Trp) rs137854602
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_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.448+88G>A rs267607028
NM_001099405.1(SCN5A):c.4246-690G>A rs137854620
NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg) rs149344567
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) rs200546024
NM_015141.3(GPD1L):c.247G>A (p.Glu83Lys) rs72552292
NM_015141.3(GPD1L):c.817C>T (p.Arg273Cys) rs72552294
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_018400.3(SCN3B):c.17G>A (p.Arg6Lys) rs587777558
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_018400.3(SCN3B):c.389C>T (p.Ala130Val) rs587777556
NM_018400.3(SCN3B):c.482T>C (p.Met161Thr) rs587777557
NM_198056.2(SCN5A):c.102_103del rs1131691708
NM_198056.2(SCN5A):c.104del (p.Gly35fs) rs1060501142
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
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.1535C>T (p.Thr512Ile) rs199473118
NM_198056.2(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_198056.2(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
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.260A>G (p.Tyr87Cys) rs1575853007
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.2933G>A (p.Trp978Ter) rs1060501135
NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_198056.2(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_198056.2(SCN5A):c.3247del (p.Ser1083fs) rs1064795784
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541
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.3694C>T (p.Arg1232Trp) rs199473207
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.435C>A (p.Cys145Ter) rs587781159
NM_198056.2(SCN5A):c.4471C>T (p.Gln1491Ter) rs1559727990
NM_198056.2(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_198056.2(SCN5A):c.4720G>T (p.Glu1574Ter) rs199473620
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.4859C>T (p.Thr1620Met) rs199473282
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.5129C>T (p.Ser1710Leu) rs137854604
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.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) rs757532106
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.611+3_611+4dup rs397514252
NM_198056.2(SCN5A):c.612-229T>G rs765669597
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
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
NM_201596.3(CACNB2):c.214-60966C>T rs587777742

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.