ClinVar Miner

List of variants in gene CACNB4 reported as uncertain significance

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Gene type:
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Total variants: 184
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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.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_000726.5(CACNB4):c.64-238T>G rs369342902 0.00042
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.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.*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.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 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.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.148-90306C>T rs547439915 0.00005
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.1553A>G (p.His518Arg) rs377492950 0.00004
NM_000726.5(CACNB4):c.521+5G>A rs768612563 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.1027C>G (p.Gln343Glu) rs1328517680 0.00003
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) rs376015337 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.640G>A (p.Asp214Asn) rs767538753 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.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.521+4C>T rs1416772263 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.*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.1061G>A (p.Ser354Asn) rs1559868500 0.00001
NM_000726.5(CACNB4):c.1083G>A (p.Leu361=) rs779341851 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.1504C>G (p.Pro502Ala) rs777642049 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.1550G>A (p.Arg517Gln) rs760115429 0.00001
NM_000726.5(CACNB4):c.208C>T (p.Arg70Trp) rs765848806 0.00001
NM_000726.5(CACNB4):c.209G>A (p.Arg70Gln) rs772769233 0.00001
NM_000726.5(CACNB4):c.280G>A (p.Ala94Thr) rs1345049325 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.313G>A (p.Gly105Ser) rs563023146 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.621G>A (p.Thr207=) rs778919621 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 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.839T>C (p.Ile280Thr) rs765961368 0.00001
NM_000726.5(CACNB4):c.857G>A (p.Arg286Gln) rs760703958 0.00001
NM_000726.5(CACNB4):c.869-8C>A rs756966816 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.*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.1015C>T (p.Pro339Ser)
NM_000726.5(CACNB4):c.1021-14TCT[2]
NM_000726.5(CACNB4):c.1030C>T (p.Arg344Trp)
NM_000726.5(CACNB4):c.1109G>C (p.Cys370Ser) rs1306015107
NM_000726.5(CACNB4):c.1198C>T (p.Arg400Cys) rs1060503174
NM_000726.5(CACNB4):c.1238T>C (p.Leu413Pro)
NM_000726.5(CACNB4):c.1271C>T (p.Ser424Leu) rs2151319737
NM_000726.5(CACNB4):c.1280C>A (p.Pro427His) rs796052290
NM_000726.5(CACNB4):c.1309C>T (p.Arg437Ter) rs529888359
NM_000726.5(CACNB4):c.1330T>C (p.Ser444Pro)
NM_000726.5(CACNB4):c.1343C>G (p.Ser448Cys) rs796052292
NM_000726.5(CACNB4):c.1348A>G (p.Ile450Val) rs773625599
NM_000726.5(CACNB4):c.138C>T (p.Ile46=)
NM_000726.5(CACNB4):c.1440T>G (p.His480Gln)
NM_000726.5(CACNB4):c.1445G>A (p.Arg482Gln) rs1277708441
NM_000726.5(CACNB4):c.1460T>C (p.Leu487Pro) rs775008250
NM_000726.5(CACNB4):c.1467AGA[1] (p.Glu490del) rs764343188
NM_000726.5(CACNB4):c.147+3A>G rs768976112
NM_000726.5(CACNB4):c.148-90290T>G
NM_000726.5(CACNB4):c.148-90331T>G rs2099873223
NM_000726.5(CACNB4):c.1504C>A (p.Pro502Thr) rs777642049
NM_000726.5(CACNB4):c.1514A>G (p.Asn505Ser) rs2099835534
NM_000726.5(CACNB4):c.1519G>T (p.Gly507Ter) rs1553740018
NM_000726.5(CACNB4):c.164A>G (p.Tyr55Cys)
NM_000726.5(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.5(CACNB4):c.272A>T (p.Lys91Ile) rs2099847658
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.371A>G (p.Asp124Gly) rs796052286
NM_000726.5(CACNB4):c.391-1G>A
NM_000726.5(CACNB4):c.399C>T (p.Asn133=) rs2099846296
NM_000726.5(CACNB4):c.443T>C (p.Ile148Thr)
NM_000726.5(CACNB4):c.468A>C (p.Arg156Ser)
NM_000726.5(CACNB4):c.517G>A (p.Gly173Arg) rs796052287
NM_000726.5(CACNB4):c.529A>G (p.Ser177Gly) rs2099844885
NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del) rs1057518634
NM_000726.5(CACNB4):c.616G>T (p.Val206Leu) rs1260619468
NM_000726.5(CACNB4):c.618+4A>C rs2099844445
NM_000726.5(CACNB4):c.619-9C>T rs2151408626
NM_000726.5(CACNB4):c.628A>G (p.Ile210Val) rs2099844376
NM_000726.5(CACNB4):c.64-244_64-241del rs1579294876
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000726.5(CACNB4):c.656T>C (p.Met219Thr) rs796052288
NM_000726.5(CACNB4):c.669G>A (p.Val223=) rs2151408188
NM_000726.5(CACNB4):c.691G>A (p.Gly231Ser)
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.869C>T (p.Ala290Val)
NM_000726.5(CACNB4):c.937G>A (p.Ala313Thr) rs2151358481
NM_000726.5(CACNB4):c.959C>T (p.Ala320Val) rs2151358415
NM_000726.5(CACNB4):c.967A>G (p.Ile323Val) rs1559871505
NM_000726.5(CACNB4):c.969A>G (p.Ile323Met)

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