ClinVar Miner

List of variants in gene CACNB2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.593+265G>T rs10734060 0.99644
NM_201596.3(CACNB2):c.805-208G>A rs7910506 0.78131
NM_201596.3(CACNB2):c.*10G>T rs4747352 0.76187
NM_201596.3(CACNB2):c.213+110546G>A rs951046 0.65825
NM_201596.3(CACNB2):c.213+109737G>A rs2357928 0.57907
NM_201596.3(CACNB2):c.670+245T>G rs10741089 0.45837
NM_201596.3(CACNB2):c.333+46G>A rs3750592 0.42472
NM_201596.3(CACNB2):c.670+120G>A rs10741088 0.42391
NM_201596.3(CACNB2):c.214-61250G>A rs10828545 0.40477
NM_201596.3(CACNB2):c.333+181G>A rs3750591 0.38797
NM_201596.3(CACNB2):c.804+796T>C rs7088091 0.34791
NM_201596.3(CACNB2):c.1303-296T>C rs10828870 0.34275
NM_201596.3(CACNB2):c.1303-135T>C rs2272274 0.34210
NM_201596.3(CACNB2):c.1489-331C>T rs6482515 0.32753
NM_201596.3(CACNB2):c.945-281T>C rs4748482 0.30634
NM_201596.3(CACNB2):c.457-243A>G rs10764540 0.27134
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.804+957_804+960del rs143534544 0.19096
NM_201596.3(CACNB2):c.670+138_670+139del rs764531607 0.17091
NM_201596.3(CACNB2):c.670+136_670+137insAC rs200375169 0.17086
NM_201596.3(CACNB2):c.1206+264G>C rs10828866 0.16844
NM_201596.3(CACNB2):c.*17T>C rs58830289 0.15250
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu) rs58225473 0.14908
NM_201596.3(CACNB2):c.214-1215G>T rs61839258 0.13747
NM_201596.3(CACNB2):c.214-185A>G rs3829133 0.13585
NM_201596.3(CACNB2):c.1302+69_1302+79del rs376046981 0.13169
NM_201596.3(CACNB2):c.213+109985C>T rs73601548 0.12946
NM_201596.3(CACNB2):c.213+110592G>A rs61844245 0.11533
NM_201596.3(CACNB2):c.334-89T>C rs11014511 0.11199
NM_201596.3(CACNB2):c.120+435G>A rs12572321 0.11003
NM_201596.3(CACNB2):c.1489-273A>C rs76540339 0.10710
NM_201596.3(CACNB2):c.121-65C>T rs61545603 0.10088
NM_201596.3(CACNB2):c.1302+71_1302+79del rs531775077 0.09843
NM_201596.3(CACNB2):c.-283C>T rs55822580 0.09320
NM_201596.3(CACNB2):c.213+22T>C rs79819217 0.08032
NM_201596.3(CACNB2):c.456+42C>G rs12257065 0.07307
NM_201596.3(CACNB2):c.-259C>A rs12764271 0.07274
NM_201596.3(CACNB2):c.214-154G>C rs16917273 0.05951
NM_201596.3(CACNB2):c.456+315G>T rs12252962 0.05904
NM_201596.3(CACNB2):c.886-195A>G rs12356533 0.05561
NM_201596.3(CACNB2):c.671-264T>C rs78940411 0.05430
NM_201596.3(CACNB2):c.1489-330G>A rs11014733 0.05058
NM_201596.3(CACNB2):c.804+40A>G rs12357063 0.05044
NM_201596.3(CACNB2):c.1489-248T>C rs116757902 0.03752
NM_201596.3(CACNB2):c.1302+76_1302+79del rs1205928600 0.03472
NM_201596.3(CACNB2):c.1488+85C>G rs11816240 0.02700
NM_201596.3(CACNB2):c.1207-294G>A rs116957158 0.01601
NM_201596.3(CACNB2):c.804+493C>T rs78902236 0.01526
NM_201596.3(CACNB2):c.1055-135A>G rs12242574 0.01440
NM_201596.3(CACNB2):c.670+232G>A rs12772518 0.01434
NM_201596.3(CACNB2):c.120+181G>C rs114546413 0.01413
NM_201596.3(CACNB2):c.-36G>A rs189082354 0.01248
NM_201596.3(CACNB2):c.671-177T>G rs140015379 0.01165
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
NM_201596.3(CACNB2):c.120+384G>T rs200606264 0.00921
NM_201596.3(CACNB2):c.885+218T>C rs77157865 0.00902
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.457-76G>A rs77537106 0.00803
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=) rs34503140 0.00787
NM_201596.3(CACNB2):c.214-312T>C rs77877152 0.00777
NM_201596.3(CACNB2):c.*52_*55dup rs199830080 0.00761
NM_201596.3(CACNB2):c.1206+150T>C rs141514332 0.00639
NM_201596.3(CACNB2):c.120+287C>T rs115602110 0.00622
NM_201596.3(CACNB2):c.1054+328C>G rs143243802 0.00591
NM_201596.3(CACNB2):c.1054+340C>T rs11816305 0.00589
NM_201596.3(CACNB2):c.1206+6T>C rs147857449 0.00575
NM_201596.3(CACNB2):c.*16_*17insC rs753335762 0.00556
NM_201596.3(CACNB2):c.334-313G>C rs116029339 0.00556
NM_201596.3(CACNB2):c.456+68A>G rs115414903 0.00493
NM_201596.3(CACNB2):c.456+104C>T rs147284586 0.00491
NM_201596.3(CACNB2):c.670+185G>A rs139575915 0.00442
NM_201596.3(CACNB2):c.213+89A>C rs142218357 0.00426
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_201596.3(CACNB2):c.594-294A>G rs138376042 0.00409
NM_201596.3(CACNB2):c.1302+200C>T rs150544506 0.00404
NM_201596.3(CACNB2):c.121-219A>C rs191267350 0.00382
NM_201596.3(CACNB2):c.120+665C>G rs551280897 0.00380
NM_201596.3(CACNB2):c.670+49C>T rs12098707 0.00366
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.214-61327A>G rs114853562 0.00354
NM_201596.3(CACNB2):c.213+110060C>A rs536234420 0.00317
NM_201596.3(CACNB2):c.213+110392C>T rs145811885 0.00316
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.804+29C>A rs143619059 0.00237
NM_201596.3(CACNB2):c.-58G>A rs182530836 0.00230
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.804+123C>T rs148536895 0.00174
NM_201596.3(CACNB2):c.214-1017G>A rs140007845 0.00126
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.121-4T>G rs74120235 0.00088
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.-30G>A rs373127841 0.00077
NM_201596.3(CACNB2):c.945-34C>T rs150371055 0.00074
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_201596.3(CACNB2):c.209G>A (p.Arg70His) rs150722502 0.00063
NM_201596.3(CACNB2):c.213+109867G>T rs140999027 0.00059
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.*76T>C rs536419495 0.00040
NM_201596.3(CACNB2):c.-31G>A rs370198927 0.00032
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.213+110046C>G rs762401414 0.00031
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) rs546669133 0.00026
NM_201596.3(CACNB2):c.120+125C>T rs199837274 0.00024
NM_201596.3(CACNB2):c.1302+47_1302+51dup rs139064706 0.00024
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674 0.00019
NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg) rs200764884 0.00017
NM_201596.3(CACNB2):c.*104T>C rs184259363 0.00014
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.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.213+109987A>G rs1025284817 0.00009
NM_201596.3(CACNB2):c.213+110129C>T rs767868406 0.00009
NM_201596.3(CACNB2):c.334-7A>T rs779728445 0.00009
NM_201596.3(CACNB2):c.87G>T (p.Val29=) rs758806288 0.00008
NM_201596.3(CACNB2):c.-17G>T rs762313883 0.00007
NM_201596.3(CACNB2):c.804+665G>A rs373932682 0.00007
NM_201596.3(CACNB2):c.-4G>A rs750808913 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.1708C>G (p.Pro570Ala) rs151274272 0.00006
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) rs730880059 0.00004
NM_201596.3(CACNB2):c.218C>T (p.Ser73Leu) rs755056713 0.00004
NM_201596.3(CACNB2):c.333+33C>T rs546006092 0.00004
NM_201596.3(CACNB2):c.342C>T (p.Pro114=) rs368505003 0.00004
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00003
NM_201596.3(CACNB2):c.1489-9C>T rs759870881 0.00003
NM_201596.3(CACNB2):c.1499G>A (p.Gly500Asp) rs758466725 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.1841G>A (p.Arg614Gln) rs367619172 0.00003
NM_201596.3(CACNB2):c.576A>G (p.Gln192=) rs756710473 0.00003
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr) rs552868927 0.00002
NM_201596.3(CACNB2):c.121-4_121-3insG rs1554759973 0.00002
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) rs755387775 0.00002
NM_201596.3(CACNB2):c.426C>T (p.Phe142=) rs564275776 0.00002
NM_201596.3(CACNB2):c.53C>T (p.Ala18Val) rs786205788 0.00002
NM_201596.3(CACNB2):c.804+176A>G rs372698667 0.00002
NM_201596.3(CACNB2):c.*5T>G rs2053959466 0.00001
NM_201596.3(CACNB2):c.100G>T (p.Ala34Ser) rs754097169 0.00001
NM_201596.3(CACNB2):c.120+360G>C rs1064795457 0.00001
NM_201596.3(CACNB2):c.1489-12T>G rs371134499 0.00001
NM_201596.3(CACNB2):c.1891A>G (p.Lys631Glu) rs200613235 0.00001
NM_201596.3(CACNB2):c.213+110324G>T rs977661158 0.00001
NM_201596.3(CACNB2):c.213+110332G>C rs786205783 0.00001
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp) rs754596850 0.00001
NM_201596.3(CACNB2):c.457-15T>C rs550954203 0.00001
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) rs761542420 0.00001
NM_201596.3(CACNB2):c.670+9G>A rs767064261 0.00001
NM_201596.3(CACNB2):c.805-4G>A rs200654601 0.00001
NM_201596.3(CACNB2):c.*10G>A rs4747352
NM_201596.3(CACNB2):c.*10G>C rs4747352
NM_201596.3(CACNB2):c.*18T>C rs777583393
NM_201596.3(CACNB2):c.*19T>C rs76261334
NM_201596.3(CACNB2):c.*32_*35del rs34022725
NM_201596.3(CACNB2):c.*33_*35del rs34022725
NM_201596.3(CACNB2):c.*34_*35del rs34022725
NM_201596.3(CACNB2):c.*34_*35dup rs34022725
NM_201596.3(CACNB2):c.*35del rs34022725
NM_201596.3(CACNB2):c.*35dup rs34022725
NM_201596.3(CACNB2):c.*70_*71dup rs3841459
NM_201596.3(CACNB2):c.*71del rs3841459
NM_201596.3(CACNB2):c.-42C>A rs138094231
NM_201596.3(CACNB2):c.120+196C>G rs117750299
NM_201596.3(CACNB2):c.120+5C>A rs1331564942
NM_201596.3(CACNB2):c.1206+123T>A rs10764582
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.1231C>G (p.Arg411Gly) rs919908363
NM_201596.3(CACNB2):c.1302+15_1302+18del rs1064795398
NM_201596.3(CACNB2):c.1302+238T>G rs117995836
NM_201596.3(CACNB2):c.1302+51_1302+52insCTT rs1401742915
NM_201596.3(CACNB2):c.1302+51_1302+52insCTTT rs1491239426
NM_201596.3(CACNB2):c.1302+77_1302+78insTGG rs760737029
NM_201596.3(CACNB2):c.1302+81_1302+82del rs150214686
NM_201596.3(CACNB2):c.1302A>G (p.Pro434=) rs775556040
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu) rs560020203
NM_201596.3(CACNB2):c.133G>A (p.Gly45Arg) rs786205785
NM_201596.3(CACNB2):c.1489-237dup rs11419902
NM_201596.3(CACNB2):c.1489-271_1489-267dup rs369813065
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=) rs143060134
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.1688G>C (p.Arg563Pro) rs766377211
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.17del (p.Met6fs) rs786205787
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.1825T>A (p.Ser609Thr) rs1064795222
NM_201596.3(CACNB2):c.1887A>G (p.Lys629=) rs2133337502
NM_201596.3(CACNB2):c.1921G>A (p.Val641Met) rs786205786
NM_201596.3(CACNB2):c.1935A>G (p.Lys645=) rs772752419
NM_201596.3(CACNB2):c.213+110350T>G rs149836040
NM_201596.3(CACNB2):c.213+110351C>A rs1057524538
NM_201596.3(CACNB2):c.213+312del rs111647206
NM_201596.3(CACNB2):c.214-1178G>C rs909703369
NM_201596.3(CACNB2):c.214-1267del rs34680296
NM_201596.3(CACNB2):c.214-1267dup rs34680296
NM_201596.3(CACNB2):c.214-1268_214-1267del rs34680296
NM_201596.3(CACNB2):c.214-1268_214-1267dup rs34680296
NM_201596.3(CACNB2):c.214-60936G>C rs778210303
NM_201596.3(CACNB2):c.214-61010G>C rs775546005
NM_201596.3(CACNB2):c.214-934C>T rs1057522003
NM_201596.3(CACNB2):c.238C>G (p.Arg80Gly) rs1554810555
NM_201596.3(CACNB2):c.334-277_334-276del rs143162094
NM_201596.3(CACNB2):c.385C>T (p.His129Tyr) rs1057524620
NM_201596.3(CACNB2):c.457-17T>G rs4485000
NM_201596.3(CACNB2):c.54G>C (p.Ala18=) rs1444080173
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) rs538160664
NM_201596.3(CACNB2):c.670+178dup rs544732217
NM_201596.3(CACNB2):c.670+242TATT[7] rs142902380
NM_201596.3(CACNB2):c.671-128dup rs5783607
NM_201596.3(CACNB2):c.804+167T>C rs1554835266
NM_201596.3(CACNB2):c.804+601A>G rs549525106
NM_201596.3(CACNB2):c.84C>T (p.Asn28=) rs763573123
NM_201596.3(CACNB2):c.944+12A>G rs144304963
NM_201596.3(CACNB2):c.944+12A>T rs144304963
NM_201596.3(CACNB2):c.945-120T>A rs183407945
NM_201596.3(CACNB2):c.945-224G>A rs11014655
NM_201596.3(CACNB2):c.96G>A (p.Ala32=) rs1057522395

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