ClinVar Miner

List of variants in gene CACNB2 studied for Brugada syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 549
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.*10G>T rs4747352 0.76187
NM_201596.3(CACNB2):c.670+2843T>C rs4748477 0.41677
NM_201596.3(CACNB2):c.1701C>T (p.Tyr567=) rs2228645 0.19212
NM_201596.3(CACNB2):c.1054+7C>T rs4314963 0.19120
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu) rs58225473 0.14908
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_201596.3(CACNB2):c.993G>A (p.Ser331=) rs76956014 0.00852
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=) rs34503140 0.00787
NM_201596.3(CACNB2):c.1206+6T>C rs147857449 0.00575
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_201596.3(CACNB2):c.1488+13_1488+33dup rs757040188 0.00361
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_201596.3(CACNB2):c.804+653G>A rs142899184 0.00292
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418 0.00282
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.354G>A (p.Ala118=) rs182163363 0.00107
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_201596.3(CACNB2):c.1293G>A (p.Gln431=) rs148414498 0.00093
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.1054+18G>A rs192538011 0.00039
NM_201596.3(CACNB2):c.1488+8G>A rs375215183 0.00032
NM_201596.3(CACNB2):c.1650C>T (p.Ser550=) rs149330185 0.00032
NM_201596.3(CACNB2):c.804+146G>T rs199539261 0.00031
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) rs561197163 0.00029
NM_201596.3(CACNB2):c.120+366C>G rs570174364 0.00026
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_201596.3(CACNB2):c.1488+9A>G rs368473992 0.00026
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) rs546669133 0.00026
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) rs144367884 0.00019
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.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_201596.3(CACNB2):c.102G>T (p.Ala34=) rs370839320 0.00013
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.671-18T>C rs551760338 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.673A>G (p.Ile225Val) rs140542975 0.00009
NM_201596.3(CACNB2):c.1640G>A (p.Arg547His) rs377657305 0.00008
NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr) rs778426010 0.00007
NM_201596.3(CACNB2):c.804+665G>A rs373932682 0.00007
NM_201596.3(CACNB2):c.966C>T (p.Thr322=) rs199847834 0.00007
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr) rs140614930 0.00006
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly) rs148674271 0.00006
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr) rs139749312 0.00006
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) rs149793143 0.00006
NM_201596.3(CACNB2):c.1206+3A>T rs200174877 0.00006
NM_201596.3(CACNB2):c.1303-4G>A rs765944934 0.00006
NM_201596.3(CACNB2):c.1443C>T (p.Ala481=) rs780182558 0.00006
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) rs199714857 0.00006
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala) rs151274272 0.00006
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys) rs994878062 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.1168G>A (p.Ala390Thr) rs370564617 0.00004
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His) rs781646326 0.00004
NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys) rs111250176 0.00004
NM_201596.3(CACNB2):c.1517G>A (p.Arg506His) rs532262049 0.00004
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His) rs1039406883 0.00004
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) rs730880059 0.00004
NM_201596.3(CACNB2):c.1671G>A (p.Ser557=) rs2228646 0.00004
NM_201596.3(CACNB2):c.1687C>G (p.Arg563Gly) rs760811952 0.00004
NM_201596.3(CACNB2):c.1735G>A (p.Val579Met) rs544535665 0.00004
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly) rs370475450 0.00004
NM_201596.3(CACNB2):c.1739A>G (p.Asp580Gly) rs762715765 0.00004
NM_201596.3(CACNB2):c.1814C>G (p.Ser605Cys) rs548428286 0.00004
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His) rs780045364 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.427G>A (p.Glu143Lys) rs368719191 0.00004
NM_201596.3(CACNB2):c.718C>G (p.Pro240Ala) rs750627674 0.00004
NM_201596.3(CACNB2):c.840C>T (p.Ser280=) rs755781519 0.00004
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00003
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.1580A>C (p.Lys527Thr) rs771565696 0.00003
NM_201596.3(CACNB2):c.1833C>T (p.Asp611=) rs777607595 0.00003
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) rs367619172 0.00003
NM_201596.3(CACNB2):c.1935A>C (p.Lys645Asn) rs772752419 0.00003
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397 0.00003
NM_201596.3(CACNB2):c.576A>G (p.Gln192=) rs756710473 0.00003
NM_201596.3(CACNB2):c.800A>G (p.Lys267Arg) rs771875189 0.00003
NM_201596.3(CACNB2):c.807A>G (p.Thr269=) rs1173334982 0.00003
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr) rs552868927 0.00002
NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val) rs578106427 0.00002
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.1654C>A (p.Gln552Lys) rs1339855749 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.1769A>C (p.His590Pro) rs2053936892 0.00002
NM_201596.3(CACNB2):c.1779G>C (p.Glu593Asp) rs1045331277 0.00002
NM_201596.3(CACNB2):c.1812G>A (p.Glu604=) rs749947014 0.00002
NM_201596.3(CACNB2):c.1879C>T (p.Arg627Cys) rs753259405 0.00002
NM_201596.3(CACNB2):c.1937G>A (p.Arg646Gln) rs374454040 0.00002
NM_201596.3(CACNB2):c.334-15C>G rs555514946 0.00002
NM_201596.3(CACNB2):c.426C>T (p.Phe142=) rs564275776 0.00002
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln) rs144461906 0.00002
NM_201596.3(CACNB2):c.886-6T>C rs368130674 0.00002
NM_201596.3(CACNB2):c.994G>T (p.Val332Leu) rs369543094 0.00002
NM_201590.3(CACNB2):c.2T>C (p.Met1Thr) rs1401122407 0.00001
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.1056G>A (p.Ala352=) rs730880058 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.1207G>A (p.Val403Ile) rs752546853 0.00001
NM_201596.3(CACNB2):c.1261G>A (p.Val421Ile) rs745337273 0.00001
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu) rs779536902 0.00001
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) rs1336353571 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.1363G>A (p.Asp455Asn) rs780208478 0.00001
NM_201596.3(CACNB2):c.1388C>T (p.Ala463Val) rs772842557 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.1488+6G>A rs966376165 0.00001
NM_201596.3(CACNB2):c.1589A>C (p.His530Pro) rs1169230473 0.00001
NM_201596.3(CACNB2):c.1602C>G (p.Ser534=) rs763107822 0.00001
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His) rs571637787 0.00001
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=) rs773373763 0.00001
NM_201596.3(CACNB2):c.1694C>T (p.Ser565Phe) rs1178558183 0.00001
NM_201596.3(CACNB2):c.1695T>C (p.Ser565=) rs754860454 0.00001
NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro) rs373826838 0.00001
NM_201596.3(CACNB2):c.1754A>T (p.His585Leu) rs1412805204 0.00001
NM_201596.3(CACNB2):c.1768C>A (p.His590Asn) rs776532519 0.00001
NM_201596.3(CACNB2):c.1786G>A (p.Gly596Arg) rs751230406 0.00001
NM_201596.3(CACNB2):c.1797C>T (p.Asp599=) rs1060504914 0.00001
NM_201596.3(CACNB2):c.1823G>A (p.Arg608His) rs771011929 0.00001
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp) rs545095722 0.00001
NM_201596.3(CACNB2):c.1840C>T (p.Arg614Ter) rs775467558 0.00001
NM_201596.3(CACNB2):c.1853A>T (p.His618Leu) rs1457911789 0.00001
NM_201596.3(CACNB2):c.1857C>T (p.Asn619=) rs774096122 0.00001
NM_201596.3(CACNB2):c.1858G>A (p.Glu620Lys) rs761643494 0.00001
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys) rs1060499847 0.00001
NM_201596.3(CACNB2):c.1874G>A (p.Arg625His) rs772911828 0.00001
NM_201596.3(CACNB2):c.1891A>G (p.Lys631Glu) rs200613235 0.00001
NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg) rs200260399 0.00001
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr) rs142735478 0.00001
NM_201596.3(CACNB2):c.1927T>C (p.Ser643Pro) rs771883602 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.287G>T (p.Arg96Leu) rs776194653 0.00001
NM_201596.3(CACNB2):c.339G>A (p.Lys113=) rs748906162 0.00001
NM_201596.3(CACNB2):c.340C>G (p.Pro114Ala) rs768218683 0.00001
NM_201596.3(CACNB2):c.353C>T (p.Ala118Val) rs371859398 0.00001
NM_201596.3(CACNB2):c.358C>T (p.Arg120Trp) rs541253552 0.00001
NM_201596.3(CACNB2):c.360G>A (p.Arg120=) rs775896337 0.00001
NM_201596.3(CACNB2):c.403G>T (p.Val135Leu) rs1060503435 0.00001
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp) rs754596850 0.00001
NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu) rs747658821 0.00001
NM_201596.3(CACNB2):c.448G>A (p.Val150Ile) rs1157722971 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.503G>A (p.Cys168Tyr) rs773215003 0.00001
NM_201596.3(CACNB2):c.510C>T (p.Ile170=) rs760606646 0.00001
NM_201596.3(CACNB2):c.511G>A (p.Gly171Arg) rs766267727 0.00001
NM_201596.3(CACNB2):c.631A>G (p.Ile211Val) rs1344965960 0.00001
NM_201596.3(CACNB2):c.663A>G (p.Pro221=) rs1213446253 0.00001
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) rs761542420 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.686C>A (p.Ala229Asp) rs145885745 0.00001
NM_201596.3(CACNB2):c.721G>A (p.Ala241Thr) rs1320589471 0.00001
NM_201596.3(CACNB2):c.742C>T (p.Pro248Ser) rs982247860 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.908C>T (p.Ala303Val) rs1444302148 0.00001
NM_201596.3(CACNB2):c.909G>A (p.Ala303=) rs144509796 0.00001
NM_201596.3(CACNB2):c.944+20G>A rs760513979 0.00001
NM_201596.3(CACNB2):c.945-9C>T rs1299127347 0.00001
NM_201596.3(CACNB2):c.977C>T (p.Ser326Leu) rs763712135 0.00001
NC_000010.10:g.(?_18629856)_(18629926_?)dup
NC_000010.10:g.(?_18795390)_(18828653_?)dup
NC_000010.10:g.(?_18807245)_(18828653_?)dup
NC_000010.11:g.(?_18518326)_(18539734_?)dup
NM_201590.2(CACNB2):c.1328del rs2053907285
NM_201590.3(CACNB2):c.12A>G (p.Arg4=) rs2132070371
NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)
NM_201590.3(CACNB2):c.15C>A (p.Arg5=) rs2132070434
NM_201590.3(CACNB2):c.20T>C (p.Ile7Thr) rs1006602326
NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)
NM_201590.3(CACNB2):c.26C>T (p.Pro9Leu)
NM_201590.3(CACNB2):c.28C>T (p.Gln10Ter) rs2041209208
NM_201590.3(CACNB2):c.32C>T (p.Thr11Ile) rs587777742
NM_201590.3(CACNB2):c.43A>T (p.Ile15Phe) rs2041210092
NM_201590.3(CACNB2):c.51G>A (p.Gly17=)
NM_201590.3(CACNB2):c.8A>G (p.Asp3Gly)
NM_201596.3(CACNB2):c.*34_*35insGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCCGTTTGTGTTTTTTTTTTTTTTTTTT (p.Ter661=)
NM_201596.3(CACNB2):c.*35del rs34022725
NM_201596.3(CACNB2):c.*9_*10insTTTTGTGTTTTTTTTTTTTTTTTTTTTGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCC (p.Ter661=) rs2133338573
NM_201596.3(CACNB2):c.1001A>G (p.Asn334Ser) rs1589701386
NM_201596.3(CACNB2):c.1017C>A (p.His339Gln) rs747015946
NM_201596.3(CACNB2):c.1021A>G (p.Ile341Val) rs2052613832
NM_201596.3(CACNB2):c.1027G>A (p.Glu343Lys)
NM_201596.3(CACNB2):c.1041A>C (p.Thr347=)
NM_201596.3(CACNB2):c.1049G>C (p.Ser350Thr) rs1348268646
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.1055-1G>A rs2053323477
NM_201596.3(CACNB2):c.1055-20A>C
NM_201596.3(CACNB2):c.1055-7T>C rs201997903
NM_201596.3(CACNB2):c.1058_1060dup (p.Glu353dup) rs2053324063
NM_201596.3(CACNB2):c.1063C>T (p.Gln355Ter)
NM_201596.3(CACNB2):c.1074C>A (p.Ile358=)
NM_201596.3(CACNB2):c.1090C>T (p.Leu364Phe) rs2053326547
NM_201596.3(CACNB2):c.1093G>A (p.Ala365Thr)
NM_201596.3(CACNB2):c.1102T>C (p.Leu368=)
NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)
NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)
NM_201596.3(CACNB2):c.1110G>A (p.Leu370=) rs1445836944
NM_201596.3(CACNB2):c.1112T>C (p.Val371Ala)
NM_201596.3(CACNB2):c.1125G>A (p.Ala375=)
NM_201596.3(CACNB2):c.1128T>C (p.Asp376=)
NM_201596.3(CACNB2):c.1130_1153del (p.Thr377_Leu384del)
NM_201596.3(CACNB2):c.1131A>G (p.Thr377=)
NM_201596.3(CACNB2):c.1138C>T (p.His380Tyr) rs935123934
NM_201596.3(CACNB2):c.1144G>C (p.Ala382Pro) rs1318411856
NM_201596.3(CACNB2):c.1150C>T (p.Leu384Phe) rs2053331995
NM_201596.3(CACNB2):c.1160C>T (p.Thr387Ile)
NM_201596.3(CACNB2):c.1161C>A (p.Thr387=)
NM_201596.3(CACNB2):c.1177A>G (p.Ile393Val)
NM_201596.3(CACNB2):c.1178T>G (p.Ile393Arg) rs139749312
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.120+379A>G
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.1206+5G>A rs2133284616
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.121-2A>T rs750396182
NM_201596.3(CACNB2):c.121-9_121-3del rs71402148
NM_201596.3(CACNB2):c.1232G>A (p.Arg411Gln) rs763862968
NM_201596.3(CACNB2):c.1252C>T (p.His418Tyr)
NM_201596.3(CACNB2):c.1257C>T (p.Leu419=)
NM_201596.3(CACNB2):c.1281T>C (p.Asp427=)
NM_201596.3(CACNB2):c.1288G>T (p.Ala430Ser) rs2053550331
NM_201596.3(CACNB2):c.1290T>C (p.Ala430=)
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His) rs148414498
NM_201596.3(CACNB2):c.1296T>C (p.Cys432=)
NM_201596.3(CACNB2):c.1297_1298delinsGT (p.Pro433Val)
NM_201596.3(CACNB2):c.1300C>T (p.Pro434Ser) rs2053551297
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.1302A>G (p.Pro434=) rs775556040
NM_201596.3(CACNB2):c.1303-18G>C
NM_201596.3(CACNB2):c.1303-19G>A rs760174810
NM_201596.3(CACNB2):c.1303-3C>T
NM_201596.3(CACNB2):c.1303G>C (p.Glu435Gln) rs1554842171
NM_201596.3(CACNB2):c.1308G>C (p.Leu436=)
NM_201596.3(CACNB2):c.1312G>A (p.Asp438Asn)
NM_201596.3(CACNB2):c.1312G>C (p.Asp438His)
NM_201596.3(CACNB2):c.1314T>C (p.Asp438=) rs878855310
NM_201596.3(CACNB2):c.1368T>C (p.Tyr456=)
NM_201596.3(CACNB2):c.1371G>A (p.Leu457=)
NM_201596.3(CACNB2):c.1377C>G (p.Ala459=)
NM_201596.3(CACNB2):c.1389C>A (p.Ala463=) rs1554842250
NM_201596.3(CACNB2):c.1390A>T (p.Thr464Ser) rs1589770075
NM_201596.3(CACNB2):c.1392C>G (p.Thr464=) rs2133324622
NM_201596.3(CACNB2):c.1396C>G (p.Pro466Ala) rs1164299168
NM_201596.3(CACNB2):c.1404C>T (p.Ser468=)
NM_201596.3(CACNB2):c.1432C>G (p.Arg478Gly)
NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys) rs551742573
NM_201596.3(CACNB2):c.1434T>C (p.Arg478=)
NM_201596.3(CACNB2):c.1436C>A (p.Thr479Lys) rs750709385
NM_201596.3(CACNB2):c.1449A>C (p.Ser483=) rs749495750
NM_201596.3(CACNB2):c.1459C>G (p.Leu487Val) rs2133325170
NM_201596.3(CACNB2):c.1461T>C (p.Leu487=)
NM_201596.3(CACNB2):c.1467C>T (p.Pro489=)
NM_201596.3(CACNB2):c.1468A>G (p.Thr490Ala)
NM_201596.3(CACNB2):c.1474G>C (p.Ala492Pro)
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.1489-1G>T rs2133332957
NM_201596.3(CACNB2):c.1489-4C>G
NM_201596.3(CACNB2):c.1489-8G>C rs557859826
NM_201596.3(CACNB2):c.1489G>A (p.Gly497Ser)
NM_201596.3(CACNB2):c.1492T>G (p.Ser498Ala) rs886046884
NM_201596.3(CACNB2):c.1503T>C (p.Asp501=)
NM_201596.3(CACNB2):c.1517_1518delinsAT (p.Arg506His) rs2133333288
NM_201596.3(CACNB2):c.1521C>A (p.Ser507=) rs143060134
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=) rs143060134
NM_201596.3(CACNB2):c.1528A>G (p.Ile510Val)
NM_201596.3(CACNB2):c.1530C>T (p.Ile510=)
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys) rs764111314
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) rs767341738
NM_201596.3(CACNB2):c.1545A>G (p.Gln515=)
NM_201596.3(CACNB2):c.1551A>G (p.Glu517=)
NM_201596.3(CACNB2):c.1559C>T (p.Pro520Leu)
NM_201596.3(CACNB2):c.1562G>A (p.Ser521Asn) rs1359160320
NM_201596.3(CACNB2):c.1570C>T (p.Pro524Ser) rs1349921106
NM_201596.3(CACNB2):c.1571C>G (p.Pro524Arg) rs1238888276
NM_201596.3(CACNB2):c.1573G>C (p.Val525Leu)
NM_201596.3(CACNB2):c.1574T>A (p.Val525Asp)
NM_201596.3(CACNB2):c.1582T>C (p.Ser528Pro) rs777178427
NM_201596.3(CACNB2):c.1591C>G (p.Arg531Gly) rs202152674
NM_201596.3(CACNB2):c.1602C>T (p.Ser534=)
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
NM_201596.3(CACNB2):c.1607C>G (p.Ala536Gly)
NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys) rs750387227
NM_201596.3(CACNB2):c.1639C>A (p.Arg547Ser) rs774654438
NM_201596.3(CACNB2):c.1639C>T (p.Arg547Cys) rs774654438
NM_201596.3(CACNB2):c.1641C>T (p.Arg547=)
NM_201596.3(CACNB2):c.1657G>A (p.Glu553Lys)
NM_201596.3(CACNB2):c.1657G>C (p.Glu553Gln)
NM_201596.3(CACNB2):c.1659G>C (p.Glu553Asp)
NM_201596.3(CACNB2):c.1663T>C (p.Phe555Leu) rs1589778402
NM_201596.3(CACNB2):c.1665T>G (p.Phe555Leu) rs878855311
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp) rs137886839
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1682A>G (p.Glu561Gly) rs2133335003
NM_201596.3(CACNB2):c.1683G>T (p.Glu561Asp)
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.1688G>C (p.Arg563Pro) rs766377211
NM_201596.3(CACNB2):c.1693T>C (p.Ser565Pro)
NM_201596.3(CACNB2):c.1701C>G (p.Tyr567Ter)
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu) rs142639223
NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu) rs142639223
NM_201596.3(CACNB2):c.1715A>T (p.Glu572Val)
NM_201596.3(CACNB2):c.1718A>C (p.Asp573Ala) rs773534767
NM_201596.3(CACNB2):c.1726C>T (p.His576Tyr)
NM_201596.3(CACNB2):c.1727_1756del (p.His576_His585del)
NM_201596.3(CACNB2):c.1731C>T (p.Asp577=)
NM_201596.3(CACNB2):c.1734C>T (p.His578=) rs1209281848
NM_201596.3(CACNB2):c.1744T>C (p.Tyr582His)
NM_201596.3(CACNB2):c.1744_1764del (p.Tyr582_His588del) rs2053933206
NM_201596.3(CACNB2):c.1748C>T (p.Ala583Val)
NM_201596.3(CACNB2):c.1752A>C (p.Ser584=)
NM_201596.3(CACNB2):c.1752A>G (p.Ser584=)
NM_201596.3(CACNB2):c.1753C>G (p.His585Asp)
NM_201596.3(CACNB2):c.1754A>G (p.His585Arg) rs1412805204
NM_201596.3(CACNB2):c.1755C>T (p.His585=) rs761097064
NM_201596.3(CACNB2):c.1757G>T (p.Arg586Leu) rs747168096
NM_201596.3(CACNB2):c.1764C>T (p.His588=) rs1280807136
NM_201596.3(CACNB2):c.1767C>G (p.Asn589Lys)
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.1777G>A (p.Glu593Lys)
NM_201596.3(CACNB2):c.1782C>T (p.Thr594=)
NM_201596.3(CACNB2):c.1793G>C (p.Ser598Thr)
NM_201596.3(CACNB2):c.1806C>T (p.His602=) rs1472987021
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) rs61733968
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) rs61733968
NM_201596.3(CACNB2):c.1817G>A (p.Arg606Gln)
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro) rs577739840
NM_201596.3(CACNB2):c.1818_1823del (p.His607_Arg608del) rs1231423069
NM_201596.3(CACNB2):c.1822_1833dup (p.Arg608_Asp611dup) rs2053942119
NM_201596.3(CACNB2):c.1823G>T (p.Arg608Leu)
NM_201596.3(CACNB2):c.1831G>A (p.Asp611Asn) rs1239176754
NM_201596.3(CACNB2):c.1844A>C (p.Glu615Ala) rs1564678668
NM_201596.3(CACNB2):c.1851C>T (p.Asp617=)
NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup) rs1554843116
NM_201596.3(CACNB2):c.1855_1857del (p.Asn619del)
NM_201596.3(CACNB2):c.1875C>G (p.Arg625=) rs2133337346
NM_201596.3(CACNB2):c.1885A>G (p.Lys629Glu) rs1554843156
NM_201596.3(CACNB2):c.1897C>T (p.Arg633Cys) rs746092806
NM_201596.3(CACNB2):c.1899C>A (p.Arg633=) rs2133337689
NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg) rs1443093872
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs) rs750015594
NM_201596.3(CACNB2):c.1913A>G (p.Asp638Gly) rs372277783
NM_201596.3(CACNB2):c.1914T>C (p.Asp638=) rs1554843214
NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)
NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr) rs1554843232
NM_201596.3(CACNB2):c.1927_1929dup (p.Ser643_Lys644insSer)
NM_201596.3(CACNB2):c.1934A>G (p.Lys645Arg)
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.1959C>G (p.Asn653Lys) rs1414134597
NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)
NM_201596.3(CACNB2):c.1962G>A (p.Arg654=)
NM_201596.3(CACNB2):c.1962G>T (p.Arg654Ser) rs915270594
NM_201596.3(CACNB2):c.1964A>T (p.Asp655Val)
NM_201596.3(CACNB2):c.1965T>C (p.Asp655=) rs58225473
NM_201596.3(CACNB2):c.1976G>A (p.Arg659His)
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.278A>C (p.Glu93Ala) rs2132536672
NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr) rs1564509094
NM_201596.3(CACNB2):c.297G>C (p.Ala99=)
NM_201596.3(CACNB2):c.301C>A (p.Arg101=) rs1357911128
NM_201596.3(CACNB2):c.305A>G (p.Gln102Arg) rs1368397195
NM_201596.3(CACNB2):c.313G>A (p.Ala105Thr) rs773650491
NM_201596.3(CACNB2):c.318G>A (p.Gln106=)
NM_201596.3(CACNB2):c.321G>A (p.Leu107=)
NM_201596.3(CACNB2):c.328G>A (p.Ala110Thr) rs765424880
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.334-5T>G rs2049964286
NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser) rs768218683
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile) rs747480172
NM_201596.3(CACNB2):c.347C>T (p.Ala116Val) rs1423731870
NM_201596.3(CACNB2):c.354G>T (p.Ala118=) rs182163363
NM_201596.3(CACNB2):c.355G>C (p.Val119Leu)
NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln) rs202220375
NM_201596.3(CACNB2):c.367G>A (p.Val123Ile) rs1488807984
NM_201596.3(CACNB2):c.377G>T (p.Ser126Ile) rs553297982
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val) rs376636577
NM_201596.3(CACNB2):c.392A>G (p.Asp131Gly) rs2133011061
NM_201596.3(CACNB2):c.392ATG[3] (p.Asp132dup) rs2049969382
NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr) rs1317419789
NM_201596.3(CACNB2):c.3G>A (p.Met1Ile)
NM_201596.3(CACNB2):c.400C>G (p.Pro134Ala)
NM_201596.3(CACNB2):c.405G>C (p.Val135=)
NM_201596.3(CACNB2):c.410G>C (p.Gly137Ala) rs754596850
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser) rs886039055
NM_201596.3(CACNB2):c.432A>G (p.Ala144=)
NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly) rs1554831392
NM_201596.3(CACNB2):c.441T>C (p.Phe147=)
NM_201596.3(CACNB2):c.442C>G (p.Leu148Val) rs1554831400
NM_201596.3(CACNB2):c.445C>T (p.His149Tyr) rs2049973374
NM_201596.3(CACNB2):c.446A>C (p.His149Pro) rs2049973507
NM_201596.3(CACNB2):c.456+10A>G
NM_201596.3(CACNB2):c.456+24_456+25insTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATAATTTCATTTTCT
NM_201596.3(CACNB2):c.457-17T>A
NM_201596.3(CACNB2):c.457-17T>G rs4485000
NM_201596.3(CACNB2):c.457-20G>A
NM_201596.3(CACNB2):c.467A>G (p.Asn156Ser)
NM_201596.3(CACNB2):c.485G>T (p.Arg162Leu) rs144461906
NM_201596.3(CACNB2):c.487T>C (p.Leu163=)
NM_201596.3(CACNB2):c.489G>A (p.Leu163=)
NM_201596.3(CACNB2):c.493A>G (p.Lys165Glu)
NM_201596.3(CACNB2):c.524G>A (p.Ser175Asn)
NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)
NM_201596.3(CACNB2):c.567A>G (p.Arg189=)
NM_201596.3(CACNB2):c.570C>T (p.Ala190=)
NM_201596.3(CACNB2):c.585C>G (p.Phe195Leu)
NM_201596.3(CACNB2):c.593+4T>C
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.594T>G (p.Ser198Arg)
NM_201596.3(CACNB2):c.600A>G (p.Ser200=)
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) rs538160664
NM_201596.3(CACNB2):c.622T>G (p.Leu208Val) rs538160664
NM_201596.3(CACNB2):c.641G>A (p.Ser214Asn)
NM_201596.3(CACNB2):c.644C>A (p.Ser215Tyr)
NM_201596.3(CACNB2):c.645C>T (p.Ser215=) rs535169510
NM_201596.3(CACNB2):c.652T>G (p.Ser218Ala) rs774211226
NM_201596.3(CACNB2):c.667T>A (p.Ser223Thr) rs1564629335
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.674T>C (p.Ile225Thr) rs772796787
NM_201596.3(CACNB2):c.682G>T (p.Asp228Tyr) rs2133126746
NM_201596.3(CACNB2):c.699T>C (p.Asp233=) rs886046883
NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr) rs1554835149
NM_201596.3(CACNB2):c.711T>C (p.Asn237=) rs570005089
NM_201596.3(CACNB2):c.712G>A (p.Asp238Asn)
NM_201596.3(CACNB2):c.736C>G (p.Pro246Ala) rs2051061080
NM_201596.3(CACNB2):c.743C>G (p.Pro248Arg)
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.804+664C>T
NM_201596.3(CACNB2):c.805-15C>T
NM_201596.3(CACNB2):c.805-3C>A rs764050459
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.818C>T (p.Pro273Leu) rs375425461
NM_201596.3(CACNB2):c.822G>C (p.Pro274=) rs199908591
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) rs889646922
NM_201596.3(CACNB2):c.831G>T (p.Val277=)
NM_201596.3(CACNB2):c.856C>G (p.Leu286Val)
NM_201596.3(CACNB2):c.859G>C (p.Val287Leu) rs1217728234
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.885+3G>A
NM_201596.3(CACNB2):c.885+4G>A
NM_201596.3(CACNB2):c.886-19_886-17del
NM_201596.3(CACNB2):c.886-7A>T rs2051550063
NM_201596.3(CACNB2):c.895ATG[1] (p.Met300del) rs2051551471
NM_201596.3(CACNB2):c.899T>A (p.Met300Lys) rs1564644091
NM_201596.3(CACNB2):c.903A>G (p.Gln301=)
NM_201596.3(CACNB2):c.910C>G (p.Leu304Val)
NM_201596.3(CACNB2):c.912G>A (p.Leu304=) rs1246608729
NM_201596.3(CACNB2):c.940G>A (p.Gly314Arg)
NM_201596.3(CACNB2):c.943C>T (p.Arg315Trp)
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+12A>T rs144304963
NM_201596.3(CACNB2):c.944+15A>T
NM_201596.3(CACNB2):c.944+3_944+6del
NM_201596.3(CACNB2):c.945-12T>C
NM_201596.3(CACNB2):c.964A>T (p.Thr322Ser) rs2052608666
NM_201596.3(CACNB2):c.967G>T (p.Ala323Ser) rs561197163

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