ClinVar Miner

List of variants in gene CACNB4 studied for Juvenile myoclonic epilepsy

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Total variants: 97
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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 0.04946
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02802
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01629
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01588
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 0.00969
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00770
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00721
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00721
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00673
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 0.00353
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.*5855A>C rs118093432 0.00312
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00309
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00281
NM_000726.5(CACNB4):c.*1909C>T rs113319414 0.00256
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00151
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.*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 0.00064
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.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00018
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
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.*1785G>A rs886054961 0.00007
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.*4081G>A rs148903851 0.00004
NM_000726.5(CACNB4):c.*5122C>T rs187940787 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.177G>A (p.Pro59=) rs552093496 0.00004
NM_000726.5(CACNB4):c.*3387C>G rs886054955 0.00002
NM_000726.5(CACNB4):c.521+9C>T rs747291810 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.1278T>C (p.Tyr426=) rs376015337 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
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.187G>C (p.Asp63His) rs886054969
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967

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