ClinVar Miner

List of variants reported as likely benign for Brugada syndrome 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys) rs77141223 0.00115
NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala) rs138060429 0.00079
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_201596.3(CACNB2):c.805-3C>T rs764050459 0.00052
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_201596.3(CACNB2):c.1488+8G>A rs375215183 0.00032
NM_201596.3(CACNB2):c.804+146G>T rs199539261 0.00031
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674 0.00019
NM_201596.3(CACNB2):c.634G>C (p.Val212Leu) rs149167651 0.00019
NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg) rs200764884 0.00017
NM_201596.3(CACNB2):c.1055-12C>T rs376222853 0.00014
NM_201596.3(CACNB2):c.306G>A (p.Gln102=) rs571930944 0.00013
NM_201596.3(CACNB2):c.1488+7G>A rs770757228 0.00011
NM_201596.3(CACNB2):c.1140T>C (p.His380=) rs151199943 0.00010
NM_201596.3(CACNB2):c.1489-8G>A rs557859826 0.00010
NM_201596.3(CACNB2):c.1719T>C (p.Asp573=) rs781283574 0.00009
NM_201596.3(CACNB2):c.334-7A>T rs779728445 0.00009
NM_201596.3(CACNB2):c.1640G>A (p.Arg547His) rs377657305 0.00008
NM_201596.3(CACNB2):c.966C>T (p.Thr322=) rs199847834 0.00007
NM_201596.3(CACNB2):c.1443C>T (p.Ala481=) rs780182558 0.00006
NM_201596.3(CACNB2):c.334-8C>T rs374465425 0.00006
NM_201596.3(CACNB2):c.1017C>T (p.His339=) rs747015946 0.00005
NM_201596.3(CACNB2):c.1092T>C (p.Leu364=) rs377767054 0.00005
NM_201596.3(CACNB2):c.1302+19C>T rs1255438545 0.00005
NM_201596.3(CACNB2):c.1539T>C (p.Ala513=) rs191856144 0.00005
NM_201596.3(CACNB2):c.978G>A (p.Ser326=) rs753506761 0.00005
NM_201596.3(CACNB2):c.1671G>A (p.Ser557=) rs2228646 0.00004
NM_201596.3(CACNB2):c.218C>T (p.Ser73Leu) rs755056713 0.00004
NM_201596.3(CACNB2):c.342C>T (p.Pro114=) rs368505003 0.00004
NM_201596.3(CACNB2):c.381G>A (p.Ala127=) rs371985646 0.00004
NM_201596.3(CACNB2):c.840C>T (p.Ser280=) rs755781519 0.00004
NM_201596.3(CACNB2):c.1055-11G>A rs370266150 0.00003
NM_201596.3(CACNB2):c.1489-9C>T rs759870881 0.00003
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr) rs759958799 0.00003
NM_201596.3(CACNB2):c.1833C>T (p.Asp611=) rs777607595 0.00003
NM_201596.3(CACNB2):c.1935A>C (p.Lys645Asn) rs772752419 0.00003
NM_201596.3(CACNB2):c.576A>G (p.Gln192=) rs756710473 0.00003
NM_201596.3(CACNB2):c.807A>G (p.Thr269=) rs1173334982 0.00003
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=) rs931370978 0.00002
NM_201596.3(CACNB2):c.1311C>T (p.Phe437=) rs560020203 0.00002
NM_201596.3(CACNB2):c.1488+20A>G rs534447096 0.00002
NM_201596.3(CACNB2):c.1713G>A (p.Lys571=) rs774536008 0.00002
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) rs755387775 0.00002
NM_201596.3(CACNB2):c.1812G>A (p.Glu604=) rs749947014 0.00002
NM_201596.3(CACNB2):c.334-15C>G rs555514946 0.00002
NM_201596.3(CACNB2):c.886-6T>C rs368130674 0.00002
NM_201590.3(CACNB2):c.39C>T (p.Tyr13=) rs1060504916 0.00001
NM_201596.3(CACNB2):c.1047A>G (p.Ser349=) rs1287275969 0.00001
NM_201596.3(CACNB2):c.1122C>T (p.Asp374=) rs770364083 0.00001
NM_201596.3(CACNB2):c.1134T>C (p.Ile378=) rs1388696673 0.00001
NM_201596.3(CACNB2):c.1332C>T (p.Asn444=) rs1260592132 0.00001
NM_201596.3(CACNB2):c.1362C>T (p.Ala454=) rs769870567 0.00001
NM_201596.3(CACNB2):c.1419C>T (p.Asn473=) rs372177929 0.00001
NM_201596.3(CACNB2):c.1431C>T (p.Ser477=) rs764828520 0.00001
NM_201596.3(CACNB2):c.1464C>T (p.Ser488=) rs1060504915 0.00001
NM_201596.3(CACNB2):c.1602C>G (p.Ser534=) rs763107822 0.00001
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=) rs773373763 0.00001
NM_201596.3(CACNB2):c.1695T>C (p.Ser565=) rs754860454 0.00001
NM_201596.3(CACNB2):c.1797C>T (p.Asp599=) rs1060504914 0.00001
NM_201596.3(CACNB2):c.1857C>T (p.Asn619=) rs774096122 0.00001
NM_201596.3(CACNB2):c.1941T>C (p.Asn647=) rs749782217 0.00001
NM_201596.3(CACNB2):c.1944G>A (p.Glu648=) rs1226944672 0.00001
NM_201596.3(CACNB2):c.1959C>T (p.Asn653=) rs1414134597 0.00001
NM_201596.3(CACNB2):c.214-60939T>C rs2041210717 0.00001
NM_201596.3(CACNB2):c.214-6C>T rs864622500 0.00001
NM_201596.3(CACNB2):c.219G>A (p.Ser73=) rs779134360 0.00001
NM_201596.3(CACNB2):c.246C>G (p.Ser82=) rs758349246 0.00001
NM_201596.3(CACNB2):c.339G>A (p.Lys113=) rs748906162 0.00001
NM_201596.3(CACNB2):c.360G>A (p.Arg120=) rs775896337 0.00001
NM_201596.3(CACNB2):c.457-15T>C rs550954203 0.00001
NM_201596.3(CACNB2):c.492A>G (p.Val164=) rs748311933 0.00001
NM_201596.3(CACNB2):c.510C>T (p.Ile170=) rs760606646 0.00001
NM_201596.3(CACNB2):c.663A>G (p.Pro221=) rs1213446253 0.00001
NM_201596.3(CACNB2):c.670+19C>T rs372107996 0.00001
NM_201596.3(CACNB2):c.670+9G>A rs767064261 0.00001
NM_201596.3(CACNB2):c.671-4A>G rs1479958358 0.00001
NM_201596.3(CACNB2):c.762G>A (p.Thr254=) rs1212860668 0.00001
NM_201596.3(CACNB2):c.805-10C>G rs770103856 0.00001
NM_201596.3(CACNB2):c.805-4G>A rs200654601 0.00001
NM_201596.3(CACNB2):c.822G>A (p.Pro274=) rs199908591 0.00001
NM_201596.3(CACNB2):c.825T>C (p.Tyr275=) rs1294783650 0.00001
NM_201596.3(CACNB2):c.909G>A (p.Ala303=) rs144509796 0.00001
NM_201596.3(CACNB2):c.945-9C>T rs1299127347 0.00001
NM_201590.3(CACNB2):c.12A>G (p.Arg4=) rs2132070371
NM_201590.3(CACNB2):c.15C>A (p.Arg5=) rs2132070434
NM_201596.3(CACNB2):c.1041A>C (p.Thr347=)
NM_201596.3(CACNB2):c.1054+7C>A rs4314963
NM_201596.3(CACNB2):c.1055-10C>G
NM_201596.3(CACNB2):c.1055-16G>A
NM_201596.3(CACNB2):c.1055-20A>C
NM_201596.3(CACNB2):c.1055-7T>C rs201997903
NM_201596.3(CACNB2):c.1074C>A (p.Ile358=)
NM_201596.3(CACNB2):c.1102T>C (p.Leu368=)
NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)
NM_201596.3(CACNB2):c.1110G>A (p.Leu370=) rs1445836944
NM_201596.3(CACNB2):c.1125G>A (p.Ala375=)
NM_201596.3(CACNB2):c.1128T>C (p.Asp376=)
NM_201596.3(CACNB2):c.1131A>G (p.Thr377=)
NM_201596.3(CACNB2):c.1161C>A (p.Thr387=)
NM_201596.3(CACNB2):c.1182A>G (p.Val394=)
NM_201596.3(CACNB2):c.1185T>C (p.Tyr395=)
NM_201596.3(CACNB2):c.1197T>C (p.Ser399=)
NM_201596.3(CACNB2):c.1203T>C (p.Pro401=)
NM_201596.3(CACNB2):c.1206+22del
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.1207-18A>C
NM_201596.3(CACNB2):c.1207-19A>T
NM_201596.3(CACNB2):c.1207-7T>C rs1589754337
NM_201596.3(CACNB2):c.1257C>T (p.Leu419=)
NM_201596.3(CACNB2):c.1281T>C (p.Asp427=)
NM_201596.3(CACNB2):c.1290T>C (p.Ala430=)
NM_201596.3(CACNB2):c.1296T>C (p.Cys432=)
NM_201596.3(CACNB2):c.1302+11T>G
NM_201596.3(CACNB2):c.1302+12C>G rs751318399
NM_201596.3(CACNB2):c.1302+12_1302+16dup
NM_201596.3(CACNB2):c.1302+13T>A
NM_201596.3(CACNB2):c.1302+15_1302+18del rs1064795398
NM_201596.3(CACNB2):c.1302+7T>C rs762745373
NM_201596.3(CACNB2):c.1303-18G>C
NM_201596.3(CACNB2):c.1308G>C (p.Leu436=)
NM_201596.3(CACNB2):c.1314T>C (p.Asp438=) rs878855310
NM_201596.3(CACNB2):c.1368T>C (p.Tyr456=)
NM_201596.3(CACNB2):c.1377C>G (p.Ala459=)
NM_201596.3(CACNB2):c.1389C>A (p.Ala463=) rs1554842250
NM_201596.3(CACNB2):c.1392C>G (p.Thr464=) rs2133324622
NM_201596.3(CACNB2):c.1404C>T (p.Ser468=)
NM_201596.3(CACNB2):c.1434T>C (p.Arg478=)
NM_201596.3(CACNB2):c.1449A>C (p.Ser483=) rs749495750
NM_201596.3(CACNB2):c.1461T>C (p.Leu487=)
NM_201596.3(CACNB2):c.1467C>T (p.Pro489=)
NM_201596.3(CACNB2):c.1476C>T (p.Ala492=) rs2133325408
NM_201596.3(CACNB2):c.1479T>C (p.Ser493=)
NM_201596.3(CACNB2):c.1488+14T>A
NM_201596.3(CACNB2):c.1488+14T>G rs200067825
NM_201596.3(CACNB2):c.1488+15TA[5]
NM_201596.3(CACNB2):c.1488+17T>C
NM_201596.3(CACNB2):c.1489-11T>C
NM_201596.3(CACNB2):c.1489-4C>G
NM_201596.3(CACNB2):c.1489-8G>C rs557859826
NM_201596.3(CACNB2):c.1503T>C (p.Asp501=)
NM_201596.3(CACNB2):c.1530C>T (p.Ile510=)
NM_201596.3(CACNB2):c.1551A>G (p.Glu517=)
NM_201596.3(CACNB2):c.1602C>T (p.Ser534=)
NM_201596.3(CACNB2):c.1641C>T (p.Arg547=)
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp) rs137886839
NM_201596.3(CACNB2):c.1687C>A (p.Arg563=) rs760811952
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211
NM_201596.3(CACNB2):c.1731C>T (p.Asp577=)
NM_201596.3(CACNB2):c.1734C>T (p.His578=) rs1209281848
NM_201596.3(CACNB2):c.1752A>C (p.Ser584=)
NM_201596.3(CACNB2):c.1752A>G (p.Ser584=)
NM_201596.3(CACNB2):c.1755C>T (p.His585=) rs761097064
NM_201596.3(CACNB2):c.1764C>T (p.His588=) rs1280807136
NM_201596.3(CACNB2):c.1776C>G (p.Asp592Glu) rs144182966
NM_201596.3(CACNB2):c.1776C>T (p.Asp592=) rs144182966
NM_201596.3(CACNB2):c.1782C>T (p.Thr594=)
NM_201596.3(CACNB2):c.1806C>T (p.His602=) rs1472987021
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) rs61733968
NM_201596.3(CACNB2):c.1851C>T (p.Asp617=)
NM_201596.3(CACNB2):c.1875C>G (p.Arg625=) rs2133337346
NM_201596.3(CACNB2):c.1899C>A (p.Arg633=) rs2133337689
NM_201596.3(CACNB2):c.1914T>C (p.Asp638=) rs1554843214
NM_201596.3(CACNB2):c.1935A>G (p.Lys645=) rs772752419
NM_201596.3(CACNB2):c.1950G>A (p.Gly650=) rs764738610
NM_201596.3(CACNB2):c.1962G>A (p.Arg654=)
NM_201596.3(CACNB2):c.1965T>C (p.Asp655=) rs58225473
NM_201596.3(CACNB2):c.214-10T>C
NM_201596.3(CACNB2):c.214-15C>T
NM_201596.3(CACNB2):c.214-18G>A rs2132535749
NM_201596.3(CACNB2):c.214-20A>G
NM_201596.3(CACNB2):c.214-4C>A rs2132535929
NM_201596.3(CACNB2):c.214-60936G>C rs778210303
NM_201596.3(CACNB2):c.214-60937C>G rs753309815
NM_201596.3(CACNB2):c.214-60937C>T rs753309815
NM_201596.3(CACNB2):c.214-60940A>G rs2041210598
NM_201596.3(CACNB2):c.219G>C (p.Ser73=) rs779134360
NM_201596.3(CACNB2):c.252C>T (p.Ser84=)
NM_201596.3(CACNB2):c.273C>T (p.Asp91=)
NM_201596.3(CACNB2):c.297G>C (p.Ala99=)
NM_201596.3(CACNB2):c.301C>A (p.Arg101=) rs1357911128
NM_201596.3(CACNB2):c.318G>A (p.Gln106=)
NM_201596.3(CACNB2):c.321G>A (p.Leu107=)
NM_201596.3(CACNB2):c.330A>G (p.Ala110=)
NM_201596.3(CACNB2):c.333+14C>T
NM_201596.3(CACNB2):c.333+20G>A
NM_201596.3(CACNB2):c.333+9G>C rs752760931
NM_201596.3(CACNB2):c.334-18T>C
NM_201596.3(CACNB2):c.354G>T (p.Ala118=) rs182163363
NM_201596.3(CACNB2):c.405G>C (p.Val135=)
NM_201596.3(CACNB2):c.432A>G (p.Ala144=)
NM_201596.3(CACNB2):c.441T>C (p.Phe147=)
NM_201596.3(CACNB2):c.456+10A>G
NM_201596.3(CACNB2):c.457-17T>A
NM_201596.3(CACNB2):c.457-20G>A
NM_201596.3(CACNB2):c.487T>C (p.Leu163=)
NM_201596.3(CACNB2):c.489G>A (p.Leu163=)
NM_201596.3(CACNB2):c.567A>G (p.Arg189=)
NM_201596.3(CACNB2):c.570C>T (p.Ala190=)
NM_201596.3(CACNB2):c.594-12G>A
NM_201596.3(CACNB2):c.594-17T>G rs1214022119
NM_201596.3(CACNB2):c.594-4C>G rs931745771
NM_201596.3(CACNB2):c.594-4C>T rs931745771
NM_201596.3(CACNB2):c.600A>G (p.Ser200=)
NM_201596.3(CACNB2):c.645C>T (p.Ser215=) rs535169510
NM_201596.3(CACNB2):c.670+16A>G
NM_201596.3(CACNB2):c.670+8G>C
NM_201596.3(CACNB2):c.671-6A>G
NM_201596.3(CACNB2):c.699T>C (p.Asp233=) rs886046883
NM_201596.3(CACNB2):c.744C>G (p.Pro248=)
NM_201596.3(CACNB2):c.768C>G (p.Pro256=)
NM_201596.3(CACNB2):c.786A>G (p.Arg262=)
NM_201596.3(CACNB2):c.804+17A>G
NM_201596.3(CACNB2):c.805-15C>T
NM_201596.3(CACNB2):c.805-6C>G
NM_201596.3(CACNB2):c.805-8C>G rs2133159506
NM_201596.3(CACNB2):c.805-8C>T
NM_201596.3(CACNB2):c.822G>C (p.Pro274=) rs199908591
NM_201596.3(CACNB2):c.831G>T (p.Val277=)
NM_201596.3(CACNB2):c.879C>T (p.Gly293=)
NM_201596.3(CACNB2):c.885+10A>T
NM_201596.3(CACNB2):c.885+20A>T
NM_201596.3(CACNB2):c.886-19_886-17del
NM_201596.3(CACNB2):c.886-7A>T rs2051550063
NM_201596.3(CACNB2):c.903A>G (p.Gln301=)
NM_201596.3(CACNB2):c.912G>A (p.Leu304=) rs1246608729
NM_201596.3(CACNB2):c.944+11C>A
NM_201596.3(CACNB2):c.944+12A>C
NM_201596.3(CACNB2):c.944+12A>G rs144304963
NM_201596.3(CACNB2):c.944+15A>T
NM_201596.3(CACNB2):c.945-12T>C

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