ClinVar Miner

List of variants in gene CACNB4 studied for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.*5385C>T rs1568673 0.93666
NM_000726.5(CACNB4):c.*442G>A rs7597215 0.39502
NM_000726.5(CACNB4):c.*3804G>C rs2344734 0.33115
NM_000726.5(CACNB4):c.*1185T>C rs13410490 0.11625
NM_000726.5(CACNB4):c.*1186G>T rs72868010 0.09750
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_000726.5(CACNB4):c.*5029T>C rs16830412 0.05230
NM_000726.5(CACNB4):c.*890G>C rs78697588 0.04885
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02768
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01717
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01698
NM_000726.5(CACNB4):c.1116+18T>C rs115324887 0.01581
NM_000726.5(CACNB4):c.*2778A>C rs114659375 0.01105
NM_000726.5(CACNB4):c.*1459T>C rs114958916 0.01102
NM_000726.5(CACNB4):c.*865G>A rs75365487 0.00988
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00814
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00778
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00768
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00714
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_000726.5(CACNB4):c.*2391T>G rs143821304 0.00454
NM_000726.5(CACNB4):c.*2729G>A rs144329745 0.00357
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.*6140G>T rs74944346 0.00321
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_000726.5(CACNB4):c.*5855A>C rs118093432 0.00312
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_000726.5(CACNB4):c.*1909C>T rs113319414 0.00256
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_000726.5(CACNB4):c.324C>T (p.Asp108=) rs147647355 0.00173
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_000726.5(CACNB4):c.*1093T>C rs142139235 0.00122
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_000726.5(CACNB4):c.792T>C (p.Ser264=) rs139448267 0.00110
NM_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_000726.5(CACNB4):c.*4969G>A rs537140595 0.00076
NM_000726.5(CACNB4):c.*1110C>A rs147608603 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_000726.5(CACNB4):c.*4976T>C rs191424720 0.00042
NM_000726.5(CACNB4):c.*5562A>G rs192309143 0.00042
NM_000726.5(CACNB4):c.*592T>C rs779110885 0.00039
NM_000726.5(CACNB4):c.*4131A>G rs373381936 0.00036
NM_000726.5(CACNB4):c.*1952C>A rs764877003 0.00026
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421 0.00013
NM_000726.5(CACNB4):c.*3475A>T rs567549082 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 0.00011
NM_000726.5(CACNB4):c.*1910_*1911del rs372743707 0.00011
NM_000726.5(CACNB4):c.*4145T>C rs781255950 0.00011
NM_000726.5(CACNB4):c.*1937T>G rs758893086 0.00009
NM_000726.5(CACNB4):c.*4919G>A rs763593694 0.00009
NM_000726.5(CACNB4):c.*5487T>C rs111700454 0.00009
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 0.00009
NM_000726.5(CACNB4):c.186C>T (p.Ser62=) rs371263141 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_000726.5(CACNB4):c.*1785G>A rs886054961 0.00006
NM_000726.5(CACNB4):c.*1931T>C rs886054958 0.00006
NM_000726.5(CACNB4):c.*4569A>G rs778742650 0.00006
NM_000726.5(CACNB4):c.620C>T (p.Thr207Met) rs750116399 0.00006
NM_000726.5(CACNB4):c.1107A>G (p.Gln369=) rs201700362 0.00005
NM_000726.5(CACNB4):c.1358G>T (p.Arg453Leu) rs768245741 0.00005
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His) rs368111233 0.00005
NM_000726.5(CACNB4):c.*4081G>A rs148903851 0.00004
NM_000726.5(CACNB4):c.*5433A>G rs563567053 0.00004
NM_000726.5(CACNB4):c.*6183A>G rs185830609 0.00004
NM_000726.5(CACNB4):c.1302+7T>C rs200945311 0.00004
NM_000726.5(CACNB4):c.1553A>G (p.His518Arg) rs377492950 0.00004
NM_000726.5(CACNB4):c.438T>C (p.Cys146=) rs373311758 0.00004
NM_000726.5(CACNB4):c.*5122C>T rs187940787 0.00003
NM_000726.5(CACNB4):c.1027C>G (p.Gln343Glu) rs1328517680 0.00003
NM_000726.5(CACNB4):c.1403G>A (p.Arg468Gln) rs1169898698 0.00003
NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter) rs370263335 0.00003
NM_000726.5(CACNB4):c.*3387C>G rs886054955 0.00002
NM_000726.5(CACNB4):c.1213A>C (p.Thr405Pro) rs536470851 0.00002
NM_000726.5(CACNB4):c.1373C>A (p.Ser458Tyr) rs761712022 0.00002
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000726.5(CACNB4):c.1496C>G (p.Thr499Ser) rs770682557 0.00002
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser) rs746415223 0.00002
NM_000726.5(CACNB4):c.*1811C>A rs886054960 0.00001
NM_000726.5(CACNB4):c.*2924T>C rs886054956 0.00001
NM_000726.5(CACNB4):c.*3688G>A rs886054954 0.00001
NM_000726.5(CACNB4):c.1021-9T>C rs1291994687 0.00001
NM_000726.5(CACNB4):c.1061G>A (p.Ser354Asn) rs1559868500 0.00001
NM_000726.5(CACNB4):c.1083G>A (p.Leu361=) rs779341851 0.00001
NM_000726.5(CACNB4):c.1199G>A (p.Arg400His) rs376491652 0.00001
NM_000726.5(CACNB4):c.1272A>G (p.Ser424=) rs767662214 0.00001
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) rs376015337 0.00001
NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln) rs751754026 0.00001
NM_000726.5(CACNB4):c.1318C>G (p.His440Asp) rs1553740358 0.00001
NM_000726.5(CACNB4):c.1417C>T (p.Arg473Cys) rs755031838 0.00001
NM_000726.5(CACNB4):c.1456C>A (p.Pro486Thr) rs1351243423 0.00001
NM_000726.5(CACNB4):c.147+14751T>C rs915286423 0.00001
NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp) rs768385119 0.00001
NM_000726.5(CACNB4):c.1489C>A (p.Gln497Lys) rs1354478341 0.00001
NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=) rs749277227 0.00001
NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=) rs779464772 0.00001
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln) rs760115429 0.00001
NM_000726.5(CACNB4):c.1554T>C (p.His518=) rs766933826 0.00001
NM_000726.5(CACNB4):c.156G>A (p.Ala52=) rs764332480 0.00001
NM_000726.5(CACNB4):c.177G>A (p.Pro59=) rs552093496 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.315C>T (p.Gly105=) rs748422887 0.00001
NM_000726.5(CACNB4):c.316G>A (p.Ala106Thr) rs781542443 0.00001
NM_000726.5(CACNB4):c.331G>A (p.Val111Met) rs764764389 0.00001
NM_000726.5(CACNB4):c.495A>T (p.Glu165Asp) rs1261256653 0.00001
NM_000726.5(CACNB4):c.503G>A (p.Arg168Lys) rs376364352 0.00001
NM_000726.5(CACNB4):c.521+9C>T rs747291810 0.00001
NM_000726.5(CACNB4):c.621G>A (p.Thr207=) rs778919621 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
NM_000726.5(CACNB4):c.640G>A (p.Asp214Asn) rs767538753 0.00001
NM_000726.5(CACNB4):c.809T>C (p.Val270Ala) rs1578499181 0.00001
NM_000726.5(CACNB4):c.815A>G (p.Asn272Ser) rs752007243 0.00001
NM_000726.5(CACNB4):c.869-5T>G rs796052289 0.00001
NM_000726.5(CACNB4):c.869-8C>A rs756966816 0.00001
NM_000726.5(CACNB4):c.930T>C (p.Val310=) rs748444028 0.00001
NM_000726.5(CACNB4):c.984A>G (p.Ala328=) rs532162701 0.00001
NM_000726.5(CACNB4):c.988A>G (p.Ile330Val) rs751029383 0.00001
NC_000002.11:g.(?_152695633)_(152739904_?)del
NC_000002.12:g.(?_151839099)_(151973733_?)del
NM_000726.5(CACNB4):c.*1501del rs886054963
NM_000726.5(CACNB4):c.*1501dup rs886054963
NM_000726.5(CACNB4):c.*151del rs79470866
NM_000726.5(CACNB4):c.*151dup rs79470866
NM_000726.5(CACNB4):c.*1635T>C rs886054962
NM_000726.5(CACNB4):c.*1826A>G rs886054959
NM_000726.5(CACNB4):c.*2188del rs75297236
NM_000726.5(CACNB4):c.*2542G>A rs886054957
NM_000726.5(CACNB4):c.*3668T>C rs543493236
NM_000726.5(CACNB4):c.*442_*443del rs886054966
NM_000726.5(CACNB4):c.*443A>G rs538829019
NM_000726.5(CACNB4):c.*454del rs879114509
NM_000726.5(CACNB4):c.*454dup rs879114509
NM_000726.5(CACNB4):c.*4845T>C rs886054953
NM_000726.5(CACNB4):c.*5418T>C rs886054952
NM_000726.5(CACNB4):c.*5863T>G rs886054951
NM_000726.5(CACNB4):c.*5977G>T rs886054950
NM_000726.5(CACNB4):c.*5995dup rs886054949
NM_000726.5(CACNB4):c.*624del rs11291336
NM_000726.5(CACNB4):c.*787del rs560958457
NM_000726.5(CACNB4):c.1021-7C>T rs2151353341
NM_000726.5(CACNB4):c.1033T>C (p.Leu345=) rs529832815
NM_000726.5(CACNB4):c.1109G>C (p.Cys370Ser) rs1306015107
NM_000726.5(CACNB4):c.1146T>C (p.Asn382=) rs927678994
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.5(CACNB4):c.1198C>T (p.Arg400Cys) rs1060503174
NM_000726.5(CACNB4):c.1309C>T (p.Arg437Ter) rs529888359
NM_000726.5(CACNB4):c.1445G>A (p.Arg482Gln) rs1277708441
NM_000726.5(CACNB4):c.1467AGA[1] (p.Glu490del) rs764343188
NM_000726.5(CACNB4):c.147+3A>G rs768976112
NM_000726.5(CACNB4):c.1509T>C (p.His503=) rs1060503173
NM_000726.5(CACNB4):c.1514A>G (p.Asn505Ser) rs2099835534
NM_000726.5(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.5(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_000726.5(CACNB4):c.311G>A (p.Cys104Tyr) rs1805031
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe) rs1367982719
NM_000726.5(CACNB4):c.391-9G>A rs1342246691
NM_000726.5(CACNB4):c.465C>T (p.Leu155=) rs2151429916
NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del) rs1057518634
NM_000726.5(CACNB4):c.582A>T (p.Ala194=) rs776968687
NM_000726.5(CACNB4):c.598+9T>G rs1578558910
NM_000726.5(CACNB4):c.610del (p.Gln204fs) rs1057518688
NM_000726.5(CACNB4):c.616G>T (p.Val206Leu) rs1260619468
NM_000726.5(CACNB4):c.618+4A>C rs2099844445
NM_000726.5(CACNB4):c.628A>G (p.Ile210Val) rs2099844376
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000726.5(CACNB4):c.669G>A (p.Val223=) rs2151408188
NM_000726.5(CACNB4):c.699+6A>G rs1454032027
NM_000726.5(CACNB4):c.757A>G (p.Arg253Gly) rs2151401327
NM_000726.5(CACNB4):c.770C>T (p.Thr257Met) rs1553749683
NM_000726.5(CACNB4):c.780A>C (p.Thr260=) rs2151376464
NM_000726.5(CACNB4):c.869C>T (p.Ala290Val)
NM_000726.5(CACNB4):c.959C>T (p.Ala320Val) rs2151358415
NM_000726.5(CACNB4):c.967A>G (p.Ile323Val) rs1559871505

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