ClinVar Miner

List of variants in gene CACNB4 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_000726.4(CACNB4):c.*1009C>T rs367723727
NM_000726.4(CACNB4):c.*1093T>C rs142139235
NM_000726.4(CACNB4):c.*1110C>A rs147608603
NM_000726.4(CACNB4):c.*1185T>C rs13410490
NM_000726.4(CACNB4):c.*1186G>T rs72868010
NM_000726.4(CACNB4):c.*1284T>G rs112989362
NM_000726.4(CACNB4):c.*1459T>C rs114958916
NM_000726.4(CACNB4):c.*1501del rs886054963
NM_000726.4(CACNB4):c.*1501dup rs886054963
NM_000726.4(CACNB4):c.*151del rs79470866
NM_000726.4(CACNB4):c.*151dup rs79470866
NM_000726.4(CACNB4):c.*1520del rs374745796
NM_000726.4(CACNB4):c.*1635T>C rs886054962
NM_000726.4(CACNB4):c.*1656T>C rs62174451
NM_000726.4(CACNB4):c.*1785G>A rs886054961
NM_000726.4(CACNB4):c.*1811C>A rs886054960
NM_000726.4(CACNB4):c.*1814G>A rs181447432
NM_000726.4(CACNB4):c.*1826A>G rs886054959
NM_000726.4(CACNB4):c.*1909C>T rs113319414
NM_000726.4(CACNB4):c.*1910_*1911del rs372743707
NM_000726.4(CACNB4):c.*1931T>C rs886054958
NM_000726.4(CACNB4):c.*1937T>G rs758893086
NM_000726.4(CACNB4):c.*1942T>C rs139629003
NM_000726.4(CACNB4):c.*1952C>A rs764877003
NM_000726.4(CACNB4):c.*2163G>A rs80306085
NM_000726.4(CACNB4):c.*2188T>G rs548234328
NM_000726.4(CACNB4):c.*2188del rs75297236
NM_000726.4(CACNB4):c.*2210A>G rs114341631
NM_000726.4(CACNB4):c.*2391T>G rs143821304
NM_000726.4(CACNB4):c.*2542G>A rs886054957
NM_000726.4(CACNB4):c.*2695G>T rs74894311
NM_000726.4(CACNB4):c.*2729G>A rs144329745
NM_000726.4(CACNB4):c.*2778A>C rs114659375
NM_000726.4(CACNB4):c.*2837A>G rs138327808
NM_000726.4(CACNB4):c.*2885T>C rs116457978
NM_000726.4(CACNB4):c.*2924T>C rs886054956
NM_000726.4(CACNB4):c.*3157T>A rs10497086
NM_000726.4(CACNB4):c.*3387C>G rs886054955
NM_000726.4(CACNB4):c.*3475A>T rs567549082
NM_000726.4(CACNB4):c.*3668T>C rs543493236
NM_000726.4(CACNB4):c.*3688G>A rs886054954
NM_000726.4(CACNB4):c.*3804G>C rs2344734
NM_000726.4(CACNB4):c.*4081G>A rs148903851
NM_000726.4(CACNB4):c.*4131A>G rs373381936
NM_000726.4(CACNB4):c.*4145T>C rs781255950
NM_000726.4(CACNB4):c.*442G>A rs7597215
NM_000726.4(CACNB4):c.*442_*443del rs886054966
NM_000726.4(CACNB4):c.*443A>G rs538829019
NM_000726.4(CACNB4):c.*454del rs879114509
NM_000726.4(CACNB4):c.*454dup rs879114509
NM_000726.4(CACNB4):c.*4569A>G rs778742650
NM_000726.4(CACNB4):c.*4570T>C rs549017506
NM_000726.4(CACNB4):c.*4771G>A rs80248494
NM_000726.4(CACNB4):c.*4773A>G rs113408437
NM_000726.4(CACNB4):c.*4845T>C rs886054953
NM_000726.4(CACNB4):c.*4919G>A rs763593694
NM_000726.4(CACNB4):c.*4969G>A rs537140595
NM_000726.4(CACNB4):c.*4976T>C rs191424720
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.*5022A>G rs548177540
NM_000726.4(CACNB4):c.*5029T>C rs16830412
NM_000726.4(CACNB4):c.*5122C>T rs187940787
NM_000726.4(CACNB4):c.*528A>T rs111999910
NM_000726.4(CACNB4):c.*5372T>C rs150406641
NM_000726.4(CACNB4):c.*5385C>T rs1568673
NM_000726.4(CACNB4):c.*5418T>C rs886054952
NM_000726.4(CACNB4):c.*5433A>G rs563567053
NM_000726.4(CACNB4):c.*5487T>C rs111700454
NM_000726.4(CACNB4):c.*5562A>G rs192309143
NM_000726.4(CACNB4):c.*5589+406dup rs886054949
NM_000726.4(CACNB4):c.*5622C>T rs187012852
NM_000726.4(CACNB4):c.*5855A>C rs118093432
NM_000726.4(CACNB4):c.*5863T>G rs886054951
NM_000726.4(CACNB4):c.*592T>C rs779110885
NM_000726.4(CACNB4):c.*5977G>T rs886054950
NM_000726.4(CACNB4):c.*6140G>T rs74944346
NM_000726.4(CACNB4):c.*6183A>G rs185830609
NM_000726.4(CACNB4):c.*624A>T rs755272601
NM_000726.4(CACNB4):c.*624del rs11291336
NM_000726.4(CACNB4):c.*737C>T rs558590558
NM_000726.4(CACNB4):c.*787del rs560958457
NM_000726.4(CACNB4):c.*795T>G rs766545084
NM_000726.4(CACNB4):c.*865G>A rs75365487
NM_000726.4(CACNB4):c.*890G>C rs78697588
NM_000726.4(CACNB4):c.-19-6G>T rs143675846
NM_000726.4(CACNB4):c.-57G>T rs886054971
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1278T>C (p.Tyr426=) rs376015337
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.1413G>A (p.Arg471=) rs1805029
NM_000726.4(CACNB4):c.177G>A (p.Pro59=) rs552093496
NM_000726.4(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000726.4(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.521+9C>T rs747291810
NM_000726.4(CACNB4):c.599-15G>A rs41270209
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000726.4(CACNB4):c.610del (p.Gln204Lysfs) rs1057518688
NM_000726.4(CACNB4):c.64-4C>T rs886054970
NM_000726.4(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000726.4(CACNB4):c.91A>C (p.Ser31Arg) rs773391545

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