ClinVar Miner

List of variants in gene CACNB4 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_000726.5(CACNB4):c.*1110C>A rs147608603 0.00074
NM_000726.5(CACNB4):c.*592T>C rs779110885 0.00039
NM_000726.5(CACNB4):c.*5235T>C rs772165308 0.00037
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.*4335G>A rs554144457 0.00019
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_000726.5(CACNB4):c.*3829C>T rs763467769 0.00018
NM_000726.5(CACNB4):c.*2170C>T rs370681136 0.00017
NM_000726.5(CACNB4):c.*3475A>T rs567549082 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 0.00011
NM_000726.5(CACNB4):c.*4145T>C rs781255950 0.00011
NM_000726.5(CACNB4):c.*5142C>T rs112953474 0.00011
NM_000726.5(CACNB4):c.*4919G>A rs763593694 0.00009
NM_000726.5(CACNB4):c.*5006A>G rs777071036 0.00009
NM_000726.5(CACNB4):c.*5487T>C rs111700454 0.00009
NM_000726.5(CACNB4):c.*908C>T rs554995802 0.00009
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.*4110A>G rs921799142 0.00006
NM_000726.5(CACNB4):c.*4569A>G rs778742650 0.00006
NM_000726.5(CACNB4):c.*3300G>A rs1414558138 0.00004
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.*1188C>G rs780434757 0.00003
NM_000726.5(CACNB4):c.*1937T>G rs758893086 0.00003
NM_000726.5(CACNB4):c.*5122C>T rs187940787 0.00003
NM_000726.5(CACNB4):c.*544T>C rs1000315079 0.00003
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) rs376015337 0.00003
NM_000726.5(CACNB4):c.*3387C>G rs886054955 0.00002
NM_000726.5(CACNB4):c.*5034G>A rs1054921749 0.00002
NM_000726.5(CACNB4):c.*1811C>A rs886054960 0.00001
NM_000726.5(CACNB4):c.*2311T>C rs967051998 0.00001
NM_000726.5(CACNB4):c.*2924T>C rs886054956 0.00001
NM_000726.5(CACNB4):c.*365C>G rs1190207749 0.00001
NM_000726.5(CACNB4):c.*3688G>A rs886054954 0.00001
NM_000726.5(CACNB4):c.*3944A>T rs1344787388 0.00001
NM_000726.5(CACNB4):c.*4330T>C rs931913677 0.00001
NM_000726.5(CACNB4):c.*4938G>A rs2099834394 0.00001
NM_000726.5(CACNB4):c.*5854A>G rs1199532180 0.00001
NM_000726.5(CACNB4):c.*915T>C rs1168191946 0.00001
NM_000726.5(CACNB4):c.1517G>A (p.Arg506Gln) rs775115799 0.00001
NM_000726.5(CACNB4):c.1535A>G (p.Tyr512Cys) rs373677349 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
NM_000726.5(CACNB4):c.*1228C>A rs1218637551
NM_000726.5(CACNB4):c.*1258A>G rs1471328839
NM_000726.5(CACNB4):c.*1441C>T rs2099835183
NM_000726.5(CACNB4):c.*1466T>G rs2099835179
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.*2001C>G rs1166952506
NM_000726.5(CACNB4):c.*2509G>A rs2099834953
NM_000726.5(CACNB4):c.*2542G>A rs886054957
NM_000726.5(CACNB4):c.*2968C>A rs569271176
NM_000726.5(CACNB4):c.*3668T>C rs543493236
NM_000726.5(CACNB4):c.*3742C>T rs2099834679
NM_000726.5(CACNB4):c.*3834G>C rs2099834659
NM_000726.5(CACNB4):c.*4154C>T rs2099834590
NM_000726.5(CACNB4):c.*442_*443del rs886054966
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.*5256G>A rs2099834315
NM_000726.5(CACNB4):c.*5418T>C rs886054952
NM_000726.5(CACNB4):c.*5679G>A rs2099834229
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.*6071T>G rs2099834151
NM_000726.5(CACNB4):c.1519G>T (p.Gly507Ter) rs1553740018
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.399C>T (p.Asn133=) rs2099846296
NM_000726.5(CACNB4):c.529A>G (p.Ser177Gly) rs2099844885
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967

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