ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.*2135C>A rs45502793 0.04380
NM_201596.3(CACNB2):c.*16_*17insC rs753335762 0.00556
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00465
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00346
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00112
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_201596.3(CACNB2):c.*36del rs752637408 0.00070
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_000335.5(SCN5A):c.*659C>T rs45446194 0.00055
NM_000335.5(SCN5A):c.*1414G>C rs74954894 0.00054
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00047
NM_000335.5(SCN5A):c.*1166G>A rs947521286 0.00046
NM_000335.5(SCN5A):c.*1074C>G rs776171341 0.00045
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000335.5(SCN5A):c.*160G>A rs772585696 0.00041
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00041
NM_000335.5(SCN5A):c.*1568G>C rs45503498 0.00038
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00038
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00033
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00030
NM_000335.5(SCN5A):c.*1743G>A rs45474195 0.00029
NM_201596.3(CACNB2):c.*758_*761dup rs780734976 0.00027
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_000335.5(SCN5A):c.*747G>A rs763830252 0.00020
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00019
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_201596.3(CACNB2):c.*621_*622insCA rs564407056 0.00016
NM_000335.5(SCN5A):c.*1058G>T rs920940184 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=) rs747356664 0.00012
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245 0.00011
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=) rs375323548 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000335.5(SCN5A):c.*688C>T rs550747620 0.00008
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000335.5(SCN5A):c.*1151G>A rs557896083 0.00007
NM_000335.5(SCN5A):c.*331T>C rs551399685 0.00007
NM_000335.5(SCN5A):c.*1932C>T rs886058437 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_001040151.2(SCN3B):c.*4588T>C rs765294617 0.00006
NM_000335.5(SCN5A):c.*990T>C rs886058448 0.00005
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00005
NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=) rs367778922 0.00005
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=) rs370684004 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00004
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=) rs775789293 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_001040151.2(SCN3B):c.*2366G>A rs867302682 0.00004
NM_000335.5(SCN5A):c.*1555C>T rs1040662890 0.00003
NM_000335.5(SCN5A):c.*663C>A rs540984871 0.00003
NM_000335.5(SCN5A):c.1800G>A (p.Val600=) rs758101066 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=) rs199473246 0.00003
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=) rs1419998623 0.00003
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000335.5(SCN5A):c.*1060G>A rs976491159 0.00002
NM_000335.5(SCN5A):c.*1087G>A rs886058446 0.00002
NM_000335.5(SCN5A):c.*2007G>A rs45593136 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00002
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.*475T>C rs889570615 0.00001
NM_000335.5(SCN5A):c.*587C>T rs1162696914 0.00001
NM_000335.5(SCN5A):c.*662C>T rs1264714663 0.00001
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00001
NM_000335.5(SCN5A):c.-53+12C>T rs886058464 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00001
NM_000335.5(SCN5A):c.2889G>A (p.Leu963=) rs2061579328 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706 0.00001
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=) rs746892102 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn) rs746418124 0.00001
NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=) rs2061028836 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu) rs765885732 0.00001
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg) rs199473338 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000719.7(CACNA1C):c.-233C>T rs886049148 0.00001
NM_001040151.2(SCN3B):c.-326C>G rs886047906 0.00001
NM_005472.5(KCNE3):c.*38G>A rs764717543 0.00001
NM_015141.3(GPD1L):c.-132G>A rs886058331 0.00001
NM_000335.5(SCN5A):c.*1048G>A rs886058447
NM_000335.5(SCN5A):c.*1201C>A rs1449334566
NM_000335.5(SCN5A):c.*131G>A rs2060999631
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1802G>A rs1477171569
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1843T>G rs2060971810
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*290G>A rs886058457
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*486C>T rs886058455
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*705C>A rs886058452
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.-107G>A rs886058466
NM_000335.5(SCN5A):c.-70C>T rs886058465
NM_000335.5(SCN5A):c.-80C>A rs2062869269
NM_000335.5(SCN5A):c.1368G>C (p.Val456=) rs2061985964
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2945G>A (p.Cys982Tyr) rs2061577593
NM_000335.5(SCN5A):c.3259G>T (p.Ala1087Ser) rs369704754
NM_000335.5(SCN5A):c.3503C>G (p.Thr1168Ser) rs779305181
NM_000335.5(SCN5A):c.3524G>A (p.Cys1175Tyr) rs2061472260
NM_000335.5(SCN5A):c.3545C>T (p.Thr1182Ile) rs1437242831
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser) rs761274563
NM_000335.5(SCN5A):c.4073A>C (p.Lys1358Thr) rs758959053
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly) rs775485359
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.4289C>G (p.Ser1430Cys) rs1226701514
NM_000335.5(SCN5A):c.4296+4G>T rs2061175433
NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=) rs886058461
NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr) rs2061021014
NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu) rs368967393
NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val) rs758704113
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000335.5(SCN5A):c.656G>C (p.Arg219Pro) rs878855296
NM_000719.7(CACNA1C):c.*1652GAATT[1] rs886049224
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) rs886049208
NM_001040151.2(SCN3B):c.*1007dup rs72553907
NM_001040151.2(SCN3B):c.*1948TATT[2] rs776449566
NM_001040151.2(SCN3B):c.*2795GAA[1] rs544984224
NM_001040151.2(SCN3B):c.*447C>A rs80017720
NM_001040151.2(SCN3B):c.-62del rs886047904
NM_005472.5(KCNE3):c.*1073AT[17] rs113583236
NM_005472.5(KCNE3):c.*1073AT[19] rs113583236
NM_005472.5(KCNE3):c.*1073AT[9] rs113583236
NM_005472.5(KCNE3):c.*919_*922dup rs60016728
NM_005472.5(KCNE3):c.*920_*922dup rs60016728
NM_005472.5(KCNE3):c.*923_*924insTTT rs886048651
NM_015141.4(GPD1L):c.*2347CT[1] rs537616228
NM_201596.3(CACNB2):c.*10_*11del rs886046886
NM_201596.3(CACNB2):c.*10del rs367928065
NM_201596.3(CACNB2):c.*124_*127dup rs886046891
NM_201596.3(CACNB2):c.*15dup rs886046887
NM_201596.3(CACNB2):c.*186_*189dup rs886046892
NM_201596.3(CACNB2):c.*41_*45dup rs758274878
NM_201596.3(CACNB2):c.*607_*608insAT rs886046898
NM_201596.3(CACNB2):c.*608_*609delinsAT rs886046899
NM_201596.3(CACNB2):c.*610AT[4] rs34551674
NM_201596.3(CACNB2):c.*610AT[8] rs34551674
NM_201596.3(CACNB2):c.*694del rs886046902
NM_201596.3(CACNB2):c.*786_*789dup rs1554843746
NM_201596.3(CACNB2):c.*790CTTGA[3] rs528559406
NM_201596.3(CACNB2):c.*835AAGT[3] rs547804393

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