ClinVar Miner

List of variants reported as pathogenic for Brugada syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys) rs755356387 0.00002
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val) rs587777556 0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) rs794727637 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NC_000003.11:g.(?_38591802)_(38674808_?)del
NC_000003.11:g.(?_38655228)_(38663986_?)del
NC_000003.11:g.(?_38674520)_(38674804_?)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_000138.5(FBN1):c.3G>T (p.Met1Ile) rs886039072
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_000335.5(SCN5A):c.104dup (p.Ser36fs)
NM_000335.5(SCN5A):c.1140+1G>A rs730880210
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter)
NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs)
NM_000335.5(SCN5A):c.1551del (p.Thr518fs)
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter) rs1207394743
NM_000335.5(SCN5A):c.1699del (p.Leu567fs)
NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter) rs2125935492
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter) rs199473579
NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter)
NM_000335.5(SCN5A):c.2166dup (p.Ile723fs)
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs)
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys) rs1575853007
NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu) rs199473172
NM_000335.5(SCN5A):c.2742del (p.Leu914fs) rs2061654524
NM_000335.5(SCN5A):c.2787+2T>A rs2061653258
NM_000335.5(SCN5A):c.2860del (p.Arg954fs) rs2061580394
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter) rs1575751854
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs) rs794728918
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter) rs199473598
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs)
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs) rs2061229370
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs) rs2125835486
NM_000335.5(SCN5A):c.4325del (p.Asn1442fs)
NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter) rs587781159
NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) rs199473620
NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.611+3_611+4dup rs397514252
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.901del (p.Trp301fs) rs2125910133
NM_000335.5(SCN5A):c.934+1G>A rs1320531023
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_001037.5(SCN1B):c.105del (p.Phe36fs)
NM_001037.5(SCN1B):c.166G>T (p.Glu56Ter)
NM_001037.5(SCN1B):c.178dup (p.Arg60fs)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.207+1G>A rs2064222084
NM_001037.5(SCN1B):c.20del (p.Ala6_Leu7insTer)
NM_001037.5(SCN1B):c.219T>G (p.Tyr73Ter) rs2151746369
NM_001037.5(SCN1B):c.24_25insT (p.Val9fs)
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.295A>T (p.Lys99Ter)
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr) rs2151745332
NM_001037.5(SCN1B):c.304C>T (p.Gln102Ter) rs2151746426
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter) rs181115510
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)
NM_001037.5(SCN1B):c.447del (p.Ala150fs)
NM_001037.5(SCN1B):c.448+10del
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)
NM_001037.5(SCN1B):c.59dup (p.Cys21fs)
NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)
NM_001040151.2(SCN3B):c.17G>A (p.Arg6Lys) rs587777558
NM_001040151.2(SCN3B):c.482T>C (p.Met161Thr) rs587777557
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys) rs2151221183
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_198056.2(SCN5A):c.4813+3_4813+6dup
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]
NM_201590.3(CACNB2):c.32C>T (p.Thr11Ile) rs587777742
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812

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