ClinVar Miner

List of variants in gene CACNA1E reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 391
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.1225+78A>G rs12407563 0.84631
NM_001205293.3(CACNA1E):c.4329+151G>A rs704330 0.84091
NM_001205293.3(CACNA1E):c.4882-228T>C rs199928 0.78498
NM_001205293.3(CACNA1E):c.5470+110T>C rs546191 0.67599
NM_001205293.3(CACNA1E):c.1316-13T>C rs7540850 0.59094
NM_001205293.3(CACNA1E):c.3731+56C>T rs704332 0.55277
NM_001205293.3(CACNA1E):c.770-184T>G rs10494540 0.47987
NM_001205293.3(CACNA1E):c.1226-289A>T rs2272694 0.46062
NM_001205293.3(CACNA1E):c.1525+255C>T rs2280864 0.45989
NM_001205293.3(CACNA1E):c.2298-97C>T rs2280865 0.43240
NM_001205293.3(CACNA1E):c.3829-164A>G rs704331 0.38328
NM_001205293.3(CACNA1E):c.3423-109G>A rs2280866 0.37269
NM_001205293.3(CACNA1E):c.4494+26G>A rs704329 0.36498
NM_001205293.3(CACNA1E):c.5268-94G>T rs704328 0.36444
NM_001205293.3(CACNA1E):c.5863G>A (p.Ala1955Thr) rs704326 0.35753
NM_001205293.3(CACNA1E):c.4008T>C (p.His1336=) rs4652678 0.32295
NM_001205293.3(CACNA1E):c.4815+28A>G rs72735265 0.26676
NM_001205293.3(CACNA1E):c.4974-278A>G rs169235 0.26504
NM_001205293.3(CACNA1E):c.4606-42dup rs149636359 0.26465
NM_001205293.3(CACNA1E):c.4973+223A>G rs199929 0.25704
NM_001205293.3(CACNA1E):c.4495-233G>C rs59106703 0.25143
NM_001205293.3(CACNA1E):c.5073C>T (p.Asn1691=) rs199930 0.24827
NM_001205293.3(CACNA1E):c.5267+216G>A rs199932 0.24116
NM_001205293.3(CACNA1E):c.5578+155A>C rs576602 0.23339
NM_001205293.3(CACNA1E):c.5787-108T>A rs593942 0.20632
NM_001205293.3(CACNA1E):c.5579-140G>C rs579105 0.20622
NM_001205293.3(CACNA1E):c.5364+273T>C rs561352 0.20582
NM_001205293.3(CACNA1E):c.5787-329C>T rs601059 0.20476
NM_001205293.3(CACNA1E):c.5365-31dup rs55887632 0.20025
NM_001205293.3(CACNA1E):c.3613-115A>G rs73045109 0.18157
NM_001205293.3(CACNA1E):c.3447C>T (p.Ile1149=) rs34488539 0.16515
NM_001205293.3(CACNA1E):c.1639-19G>A rs4651113 0.15248
NM_001205293.3(CACNA1E):c.373-324C>T rs17494681 0.14311
NM_001205293.3(CACNA1E):c.616+293A>G rs77757639 0.13764
NM_001205293.3(CACNA1E):c.2577T>A (p.Asp859Glu) rs35737760 0.12668
NM_001205293.3(CACNA1E):c.1056-8G>A rs17743547 0.12468
NM_001205293.3(CACNA1E):c.2075-287C>T rs59778354 0.10996
NM_001205293.3(CACNA1E):c.3422+212A>T rs2293990 0.10357
NM_001205293.3(CACNA1E):c.372+188G>A rs56233035 0.10032
NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=) rs17443123 0.10021
NM_001205293.3(CACNA1E):c.*216T>C rs2280869 0.07609
NM_001205293.3(CACNA1E):c.5787-164C>G rs593875 0.06694
NM_001205293.3(CACNA1E):c.6208+58C>G rs73045170 0.05962
NM_001205293.3(CACNA1E):c.1315+168A>T rs866126891 0.05806
NM_001205293.3(CACNA1E):c.5365-101C>T rs74489861 0.04958
NM_001205293.3(CACNA1E):c.5365-80C>T rs74342664 0.04949
NM_001205293.3(CACNA1E):c.373-85C>T rs6656283 0.04355
NM_001205293.3(CACNA1E):c.1751+113C>T rs72735230 0.04087
NM_001205293.3(CACNA1E):c.5899-41G>A rs75408623 0.03795
NM_001205293.3(CACNA1E):c.952-260T>C rs3845440 0.03544
NM_001205293.3(CACNA1E):c.513-235C>A rs183219601 0.03445
NM_001205293.3(CACNA1E):c.513-236A>C rs190998640 0.03444
NM_001205293.3(CACNA1E):c.4815+217T>C rs73045141 0.03399
NM_001205293.3(CACNA1E):c.1884-114del rs150294854 0.03248
NM_001205293.3(CACNA1E):c.5139+66C>A rs73045154 0.02989
NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=) rs34741608 0.02935
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser) rs41304253 0.02916
NM_001205293.3(CACNA1E):c.3829-202G>A rs73045129 0.02837
NM_001205293.3(CACNA1E):c.3263-15G>A rs11808627 0.02783
NM_001205293.3(CACNA1E):c.2142+249A>G rs75128049 0.02756
NM_001205293.3(CACNA1E):c.2143-113T>G rs113681565 0.02756
NM_001205293.3(CACNA1E):c.1957-149A>T rs113148397 0.02750
NM_001205293.3(CACNA1E):c.2949-79G>A rs74127834 0.02534
NM_001205293.3(CACNA1E):c.3732-14C>T rs2293991 0.02361
NM_001205293.3(CACNA1E):c.5898+197A>G rs115781516 0.02103
NM_001205293.3(CACNA1E):c.6399+89C>T rs79860368 0.01898
NM_001205293.3(CACNA1E):c.4605+12A>C rs9662282 0.01546
NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=) rs34942364 0.01214
NM_001205293.3(CACNA1E):c.373-14C>T rs4083900 0.00970
NM_001205293.3(CACNA1E):c.4606-7T>C rs74444271 0.00757
NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met) rs74127835 0.00634
NM_001205293.3(CACNA1E):c.1638+45T>C rs139092974 0.00578
NM_001205293.3(CACNA1E):c.3263-16C>T rs74127837 0.00543
NM_001205293.3(CACNA1E):c.6008G>A (p.Arg2003His) rs189129701 0.00461
NM_001205293.3(CACNA1E):c.1956+19G>A rs111734002 0.00431
NM_001205293.3(CACNA1E):c.3422+51G>C rs182556822 0.00394
NM_001205293.3(CACNA1E):c.4329+14G>A rs138957815 0.00394
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_001205293.3(CACNA1E):c.3989+16G>A rs77439656 0.00383
NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln) rs202202209 0.00361
NM_001205293.3(CACNA1E):c.4089G>T (p.Leu1363=) rs199667506 0.00349
NM_001205293.3(CACNA1E):c.2298-16C>T rs189050461 0.00345
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys) rs74695054 0.00344
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=) rs111619313 0.00330
NM_001205293.3(CACNA1E):c.1956+47G>A rs187650141 0.00298
NM_001205293.3(CACNA1E):c.6399+3G>A rs377238885 0.00297
NM_001205293.3(CACNA1E):c.6027+20A>G rs190743003 0.00263
NM_001205293.3(CACNA1E):c.2298-38T>C rs376600854 0.00262
NM_001205293.3(CACNA1E):c.4606-37C>A rs371652502 0.00255
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=) rs115093623 0.00255
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=) rs200603172 0.00235
NM_001205293.3(CACNA1E):c.5853T>C (p.Cys1951=) rs374978888 0.00220
NM_001205293.3(CACNA1E):c.5679+10A>C rs77123326 0.00218
NM_001205293.3(CACNA1E):c.6027+27C>G rs137964585 0.00212
NM_001205293.3(CACNA1E):c.770-47G>A rs369243894 0.00195
NM_001205293.3(CACNA1E):c.3732-101A>G rs568839173 0.00194
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=) rs200952541 0.00157
NM_001205293.3(CACNA1E):c.4548C>T (p.Ala1516=) rs201602244 0.00139
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=) rs182071786 0.00138
NM_001205293.3(CACNA1E):c.4973+41T>C rs139243614 0.00138
NM_001205293.3(CACNA1E):c.954C>T (p.Thr318=) rs147221625 0.00138
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=) rs3856089 0.00131
NM_001205293.3(CACNA1E):c.3263-31T>C rs369806879 0.00120
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=) rs375338599 0.00118
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=) rs183395195 0.00114
NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln) rs201406071 0.00113
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=) rs183065185 0.00105
NM_001205293.3(CACNA1E):c.945G>A (p.Leu315=) rs184822223 0.00100
NM_001205293.3(CACNA1E):c.1171+13G>A rs367834352 0.00088
NM_001205293.3(CACNA1E):c.4212A>G (p.Val1404=) rs61731221 0.00086
NM_001205293.3(CACNA1E):c.1348G>T (p.Ala450Ser) rs35606457 0.00085
NM_001205293.3(CACNA1E):c.4606-29A>T rs369121577 0.00085
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=) rs115927746 0.00085
NM_001205293.3(CACNA1E):c.1884-44T>G rs191792823 0.00081
NM_001205293.3(CACNA1E):c.3837C>T (p.Phe1279=) rs41315709 0.00079
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=) rs375018770 0.00072
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=) rs182225778 0.00068
NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu) rs191359537 0.00068
NM_001205293.3(CACNA1E):c.3720-37T>C rs141441184 0.00064
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=) rs372607441 0.00061
NM_001205293.3(CACNA1E):c.6028-28G>A rs368602469 0.00060
NM_001205293.3(CACNA1E):c.4690-24A>G rs376487264 0.00059
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_001205293.3(CACNA1E):c.1315+12C>G rs373180436 0.00053
NM_001205293.3(CACNA1E):c.5365-25T>G rs372063125 0.00051
NM_001205293.3(CACNA1E):c.4495-26T>C rs370203584 0.00050
NM_001205293.3(CACNA1E):c.4287A>G (p.Gln1429=) rs534133872 0.00049
NM_001205293.3(CACNA1E):c.5008C>T (p.Leu1670=) rs143906181 0.00049
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val) rs200469194 0.00047
NM_001205293.3(CACNA1E):c.5365-32T>G rs3927750 0.00046
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00045
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00045
NM_001205293.3(CACNA1E):c.6027+43G>A rs564487082 0.00043
NM_001205293.3(CACNA1E):c.5898+31T>A rs187701933 0.00041
NM_001205293.3(CACNA1E):c.3263-13G>A rs368969096 0.00040
NM_001205293.3(CACNA1E):c.3552+36T>C rs200416833 0.00038
NM_001205293.3(CACNA1E):c.5898+10T>C rs375791346 0.00035
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys) rs200113695 0.00033
NM_001205293.3(CACNA1E):c.4605+21C>T rs372381671 0.00032
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=) rs377234151 0.00029
NM_001205293.3(CACNA1E):c.183C>T (p.Asn61=) rs372445856 0.00028
NM_001205293.3(CACNA1E):c.372+12C>A rs376256311 0.00028
NM_001205293.3(CACNA1E):c.5710C>A (p.Pro1904Thr) rs149629433 0.00028
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 0.00025
NM_001205293.3(CACNA1E):c.3183C>G (p.Asp1061Glu) rs556267480 0.00024
NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=) rs371345680 0.00024
NM_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile) rs368636412 0.00024
NM_001205293.3(CACNA1E):c.5267+20G>A rs375721145 0.00021
NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met) rs371974841 0.00020
NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu) rs566701744 0.00019
NM_001205293.3(CACNA1E):c.5238C>T (p.Arg1746=) rs759983450 0.00018
NM_001205293.3(CACNA1E):c.4881+24G>A rs145688780 0.00016
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr) rs202118773 0.00015
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr) rs560469774 0.00014
NM_001205293.3(CACNA1E):c.2238C>T (p.Ile746=) rs201629878 0.00012
NM_001205293.3(CACNA1E):c.2405C>T (p.Ala802Val) rs374689888 0.00012
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_001205293.3(CACNA1E):c.3066G>A (p.Thr1022=) rs373164787 0.00011
NM_001205293.3(CACNA1E):c.3539C>T (p.Ser1180Leu) rs202226007 0.00011
NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr) rs142822925 0.00010
NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=) rs762242384 0.00010
NM_001205293.3(CACNA1E):c.6920C>T (p.Thr2307Met) rs564755599 0.00010
NM_001205293.3(CACNA1E):c.3362G>A (p.Arg1121His) rs370899738 0.00009
NM_001205293.3(CACNA1E):c.4606-43T>C rs72735263 0.00009
NM_001205293.3(CACNA1E):c.6625G>A (p.Glu2209Lys) rs201030442 0.00009
NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln) rs749565023 0.00009
NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser) rs1284163110 0.00008
NM_001205293.3(CACNA1E):c.28G>T (p.Ala10Ser) rs751662861 0.00008
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.4404G>A (p.Gln1468=) rs370478765 0.00008
NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln) rs754653742 0.00008
NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys) rs376475241 0.00007
NM_001205293.3(CACNA1E):c.75G>T (p.Arg25=) rs766436031 0.00007
NM_001205293.3(CACNA1E):c.2987C>T (p.Ala996Val) rs545969150 0.00006
NM_001205293.3(CACNA1E):c.3147C>T (p.Ser1049=) rs750902818 0.00006
NM_001205293.3(CACNA1E):c.5050G>A (p.Ala1684Thr) rs373091982 0.00006
NM_001205293.3(CACNA1E):c.5067C>T (p.Asn1689=) rs377382446 0.00006
NM_001205293.3(CACNA1E):c.5253T>C (p.Tyr1751=) rs753132042 0.00006
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His) rs372520364 0.00006
NM_001205293.3(CACNA1E):c.969A>G (p.Gly323=) rs555540452 0.00006
NM_001205293.3(CACNA1E):c.2758C>T (p.Arg920Cys) rs769232172 0.00005
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys) rs372912168 0.00005
NM_001205293.3(CACNA1E):c.6350G>A (p.Arg2117His) rs376695821 0.00005
NM_001205293.3(CACNA1E):c.1315+166_1315+167insA rs1653885505 0.00004
NM_001205293.3(CACNA1E):c.5701C>T (p.Arg1901Cys) rs199591744 0.00004
NM_001205293.3(CACNA1E):c.5794C>T (p.Arg1932Trp) rs776416674 0.00004
NM_001205293.3(CACNA1E):c.6122G>A (p.Arg2041Gln) rs748537145 0.00004
NM_001205293.3(CACNA1E):c.6399+7G>A rs371359893 0.00004
NM_001205293.3(CACNA1E):c.6878C>T (p.Pro2293Leu) rs750079172 0.00004
NM_001205293.3(CACNA1E):c.1055+12G>A rs118043317 0.00003
NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His) rs777347120 0.00003
NM_001205293.3(CACNA1E):c.2665C>G (p.His889Asp) rs374935515 0.00003
NM_001205293.3(CACNA1E):c.2812C>T (p.Arg938Trp) rs375056155 0.00003
NM_001205293.3(CACNA1E):c.3180G>A (p.Thr1060=) rs770533002 0.00003
NM_001205293.3(CACNA1E):c.5049C>T (p.Thr1683=) rs377072842 0.00003
NM_001205293.3(CACNA1E):c.5470+23G>C rs748648041 0.00003
NM_001205293.3(CACNA1E):c.5787-17T>C rs747757024 0.00003
NM_001205293.3(CACNA1E):c.5872G>A (p.Gly1958Arg) rs376329789 0.00003
NM_001205293.3(CACNA1E):c.5887C>T (p.Arg1963Trp) rs767454901 0.00003
NM_001205293.3(CACNA1E):c.6841G>A (p.Gly2281Arg) rs746705934 0.00003
NM_001205293.3(CACNA1E):c.3143A>G (p.Gln1048Arg) rs370791292 0.00002
NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu) rs758128368 0.00002
NM_001205293.3(CACNA1E):c.5776G>A (p.Val1926Ile) rs765549822 0.00002
NM_001205293.3(CACNA1E):c.6027+37C>T rs149489537 0.00002
NM_001205293.3(CACNA1E):c.6083G>A (p.Arg2028His) rs1014152863 0.00002
NM_001205293.3(CACNA1E):c.6193C>G (p.Leu2065Val) rs753214686 0.00002
NM_001205293.3(CACNA1E):c.1055+31A>T rs754194469 0.00001
NM_001205293.3(CACNA1E):c.1056-6C>T rs544963241 0.00001
NM_001205293.3(CACNA1E):c.1111C>T (p.Arg371Trp) rs749043003 0.00001
NM_001205293.3(CACNA1E):c.1172-4A>G rs778007393 0.00001
NM_001205293.3(CACNA1E):c.1186G>A (p.Ala396Thr) rs777265667 0.00001
NM_001205293.3(CACNA1E):c.1331G>A (p.Arg444Gln) rs757539233 0.00001
NM_001205293.3(CACNA1E):c.1405A>G (p.Ile469Val) rs751268343 0.00001
NM_001205293.3(CACNA1E):c.2297+12C>G rs767619020 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001205293.3(CACNA1E):c.2426A>G (p.Asn809Ser) rs534272474 0.00001
NM_001205293.3(CACNA1E):c.2486G>A (p.Arg829Gln) rs748035206 0.00001
NM_001205293.3(CACNA1E):c.2546G>A (p.Arg849His) rs570878178 0.00001
NM_001205293.3(CACNA1E):c.2560G>C (p.Gly854Arg) rs750125514 0.00001
NM_001205293.3(CACNA1E):c.2622G>T (p.Leu874Phe) rs747235986 0.00001
NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp) rs771126920 0.00001
NM_001205293.3(CACNA1E):c.2768A>G (p.His923Arg) rs1157364148 0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His) rs373971175 0.00001
NM_001205293.3(CACNA1E):c.2813G>A (p.Arg938Gln) rs762485881 0.00001
NM_001205293.3(CACNA1E):c.2839A>G (p.Ser947Gly) rs932095325 0.00001
NM_001205293.3(CACNA1E):c.2889G>T (p.Arg963Ser) rs748692975 0.00001
NM_001205293.3(CACNA1E):c.2981G>T (p.Gly994Val) rs1429283789 0.00001
NM_001205293.3(CACNA1E):c.3001G>A (p.Glu1001Lys) rs369934954 0.00001
NM_001205293.3(CACNA1E):c.3253G>A (p.Val1085Met) rs768308084 0.00001
NM_001205293.3(CACNA1E):c.3262+38C>T rs765647764 0.00001
NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val) rs772170723 0.00001
NM_001205293.3(CACNA1E):c.3275C>T (p.Thr1092Met) rs1382064469 0.00001
NM_001205293.3(CACNA1E):c.3585C>T (p.Gly1195=) rs376133244 0.00001
NM_001205293.3(CACNA1E):c.3851C>A (p.Thr1284Asn) rs376774223 0.00001
NM_001205293.3(CACNA1E):c.5268T>C (p.Cys1756=) rs374944539 0.00001
NM_001205293.3(CACNA1E):c.530G>A (p.Gly177Glu) rs751409680 0.00001
NM_001205293.3(CACNA1E):c.5576A>G (p.Lys1859Arg) rs1397321654 0.00001
NM_001205293.3(CACNA1E):c.5827C>T (p.Pro1943Ser) rs549170593 0.00001
NM_001205293.3(CACNA1E):c.5866G>A (p.Asp1956Asn) rs1033770342 0.00001
NM_001205293.3(CACNA1E):c.5888G>A (p.Arg1963Gln) rs369566269 0.00001
NM_001205293.3(CACNA1E):c.6056G>A (p.Arg2019His) rs775309185 0.00001
NM_001205293.3(CACNA1E):c.6191G>A (p.Arg2064His) rs779562850 0.00001
NM_001205293.3(CACNA1E):c.6623C>T (p.Thr2208Ile) rs1175759822 0.00001
NM_001205293.3(CACNA1E):c.6641C>T (p.Pro2214Leu) rs767278261 0.00001
NM_001205293.3(CACNA1E):c.92C>T (p.Pro31Leu) rs780719691 0.00001
NC_000001.11:g.181483216_181483219del rs5779103
NC_000001.11:g.181483508_181483509insCT rs375048675
NM_001205293.3(CACNA1E):c.*13C>A rs144714729
NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1055+120G>C rs61119076
NM_001205293.3(CACNA1E):c.1171+14dup rs1302482602
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1216G>A (p.Ala406Thr)
NM_001205293.3(CACNA1E):c.1225+262= rs2472208
NM_001205293.3(CACNA1E):c.1295G>A (p.Cys432Tyr)
NM_001205293.3(CACNA1E):c.1297G>A (p.Val433Ile)
NM_001205293.3(CACNA1E):c.1315+183del rs35884110
NM_001205293.3(CACNA1E):c.1315+183dup rs35884110
NM_001205293.3(CACNA1E):c.143G>A (p.Arg48Gln)
NM_001205293.3(CACNA1E):c.1451G>T (p.Ser484Ile)
NM_001205293.3(CACNA1E):c.1550G>T (p.Gly517Val)
NM_001205293.3(CACNA1E):c.1570T>A (p.Ser524Thr)
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.1638+9_1638+10delinsCT
NM_001205293.3(CACNA1E):c.170C>T (p.Pro57Leu)
NM_001205293.3(CACNA1E):c.1744A>G (p.Ile582Val) rs2102476612
NM_001205293.3(CACNA1E):c.1910C>T (p.Ser637Leu)
NM_001205293.3(CACNA1E):c.1957-12T>G
NM_001205293.3(CACNA1E):c.1957-131del rs371501501
NM_001205293.3(CACNA1E):c.197A>G (p.Asn66Ser)
NM_001205293.3(CACNA1E):c.2074+11del rs771520100
NM_001205293.3(CACNA1E):c.2143-131T>C rs111644624
NM_001205293.3(CACNA1E):c.2165C>G (p.Ala722Gly)
NM_001205293.3(CACNA1E):c.2238C>A (p.Ile746=) rs201629878
NM_001205293.3(CACNA1E):c.2249G>C (p.Arg750Thr)
NM_001205293.3(CACNA1E):c.2257A>G (p.Arg753Gly) rs2102541218
NM_001205293.3(CACNA1E):c.2297+47G>A rs746670580
NM_001205293.3(CACNA1E):c.2297+9G>A
NM_001205293.3(CACNA1E):c.2371A>G (p.Met791Val) rs2102549129
NM_001205293.3(CACNA1E):c.2405C>A (p.Ala802Glu)
NM_001205293.3(CACNA1E):c.2410A>G (p.Thr804Ala)
NM_001205293.3(CACNA1E):c.2411C>T (p.Thr804Ile) rs2102549416
NM_001205293.3(CACNA1E):c.2444_2461del (p.Ser815_Leu820del)
NM_001205293.3(CACNA1E):c.2462A>G (p.Asn821Ser)
NM_001205293.3(CACNA1E):c.2477T>G (p.Leu826Arg)
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1]) rs763708603
NM_001205293.3(CACNA1E):c.2536G>A (p.Glu846Lys) rs776705172
NM_001205293.3(CACNA1E):c.2574G>C (p.Gly858=)
NM_001205293.3(CACNA1E):c.2596G>A (p.Ala866Thr)
NM_001205293.3(CACNA1E):c.2608C>A (p.Gln870Lys) rs2102551312
NM_001205293.3(CACNA1E):c.2653G>A (p.Ala885Thr)
NM_001205293.3(CACNA1E):c.2695G>T (p.Ala899Ser)
NM_001205293.3(CACNA1E):c.2699G>C (p.Gly900Ala)
NM_001205293.3(CACNA1E):c.2732G>C (p.Arg911Pro) rs781514358
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile) rs370910420
NM_001205293.3(CACNA1E):c.2837G>A (p.Arg946His)
NM_001205293.3(CACNA1E):c.2851G>A (p.Ala951Thr) rs2102553424
NM_001205293.3(CACNA1E):c.2858C>T (p.Pro953Leu)
NM_001205293.3(CACNA1E):c.2859C>T (p.Pro953=) rs368664580
NM_001205293.3(CACNA1E):c.2876A>C (p.Asp959Ala)
NM_001205293.3(CACNA1E):c.2949-3C>T
NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn) rs1655719165
NM_001205293.3(CACNA1E):c.3011C>G (p.Thr1004Ser) rs1655719165
NM_001205293.3(CACNA1E):c.3071A>G (p.Gln1024Arg)
NM_001205293.3(CACNA1E):c.3073G>A (p.Glu1025Lys) rs747813929
NM_001205293.3(CACNA1E):c.3086G>A (p.Ser1029Asn)
NM_001205293.3(CACNA1E):c.3233A>G (p.Asp1078Gly) rs1655753199
NM_001205293.3(CACNA1E):c.3423-121C>T rs73045106
NM_001205293.3(CACNA1E):c.372+14del rs1448472568
NM_001205293.3(CACNA1E):c.3720G>T (p.Ala1240=)
NM_001205293.3(CACNA1E):c.3732-15dup rs2102664475
NM_001205293.3(CACNA1E):c.3828+43A>G rs188477220
NM_001205293.3(CACNA1E):c.3831C>A (p.Ala1277=) rs151199991
NM_001205293.3(CACNA1E):c.3984G>T (p.Glu1328Asp) rs779159820
NM_001205293.3(CACNA1E):c.4329+4del
NM_001205293.3(CACNA1E):c.4330-53A>T rs12564606
NM_001205293.3(CACNA1E):c.4411G>A (p.Val1471Met) rs915291484
NM_001205293.3(CACNA1E):c.4477G>A (p.Val1493Ile)
NM_001205293.3(CACNA1E):c.4495-301T>C rs199917
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
NM_001205293.3(CACNA1E):c.469C>T (p.Arg157Cys)
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.4973+5C>G
NM_001205293.3(CACNA1E):c.5027A>G (p.Lys1676Arg) rs2102770892
NM_001205293.3(CACNA1E):c.5045C>G (p.Thr1682Ser) rs775398717
NM_001205293.3(CACNA1E):c.5067C>G (p.Asn1689Lys) rs377382446
NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)
NM_001205293.3(CACNA1E):c.5140-12del rs752600141
NM_001205293.3(CACNA1E):c.5223G>A (p.Leu1741=)
NM_001205293.3(CACNA1E):c.5268-1936G>A
NM_001205293.3(CACNA1E):c.5365-200ACA[5] rs139017405
NM_001205293.3(CACNA1E):c.5365-286A>T rs77483262
NM_001205293.3(CACNA1E):c.5365-32del rs112594566
NM_001205293.3(CACNA1E):c.5365-32dup rs112594566
NM_001205293.3(CACNA1E):c.5404A>T (p.Thr1802Ser)
NM_001205293.3(CACNA1E):c.5470+11_5470+15del rs3830692
NM_001205293.3(CACNA1E):c.5522C>T (p.Ala1841Val)
NM_001205293.3(CACNA1E):c.5578+6G>T rs1660716962
NM_001205293.3(CACNA1E):c.5647G>A (p.Val1883Met) rs557456591
NM_001205293.3(CACNA1E):c.5663A>G (p.Gln1888Arg)
NM_001205293.3(CACNA1E):c.5680-46C>A rs473200
NM_001205293.3(CACNA1E):c.5680-46C>T rs473200
NM_001205293.3(CACNA1E):c.5689C>T (p.Pro1897Ser)
NM_001205293.3(CACNA1E):c.5694G>A (p.Met1898Ile)
NM_001205293.3(CACNA1E):c.5726A>G (p.Gln1909Arg) rs1406883950
NM_001205293.3(CACNA1E):c.5727G>C (p.Gln1909His)
NM_001205293.3(CACNA1E):c.5747A>T (p.Lys1916Ile)
NM_001205293.3(CACNA1E):c.5762T>G (p.Leu1921Arg) rs770750685
NM_001205293.3(CACNA1E):c.5783G>A (p.Gly1928Asp)
NM_001205293.3(CACNA1E):c.5787-136dup rs1553358120
NM_001205293.3(CACNA1E):c.5787-138_5787-137insTA rs34600959
NM_001205293.3(CACNA1E):c.5787-138_5787-137insTTA rs34600959
NM_001205293.3(CACNA1E):c.5787-138dup rs33973972
NM_001205293.3(CACNA1E):c.5791G>A (p.Gly1931Ser)
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=) rs35611740
NM_001205293.3(CACNA1E):c.5824T>C (p.Ser1942Pro)
NM_001205293.3(CACNA1E):c.5862C>T (p.Pro1954=)
NM_001205293.3(CACNA1E):c.5990G>T (p.Arg1997Met) rs544113218
NM_001205293.3(CACNA1E):c.6028-36C>A rs758155486
NM_001205293.3(CACNA1E):c.6028-44C>T rs372366948
NM_001205293.3(CACNA1E):c.6055C>T (p.Arg2019Cys)
NM_001205293.3(CACNA1E):c.6154C>T (p.Arg2052Trp)
NM_001205293.3(CACNA1E):c.617-3T>C
NM_001205293.3(CACNA1E):c.6176G>A (p.Arg2059Gln)
NM_001205293.3(CACNA1E):c.6212A>G (p.His2071Arg)
NM_001205293.3(CACNA1E):c.6398A>C (p.Gln2133Pro)
NM_001205293.3(CACNA1E):c.6399+6C>T rs368933098
NM_001205293.3(CACNA1E):c.6400-22C>T rs373653538
NM_001205293.3(CACNA1E):c.6428T>C (p.Ile2143Thr) rs369522939
NM_001205293.3(CACNA1E):c.6433T>C (p.Ser2145Pro)
NM_001205293.3(CACNA1E):c.6469C>T (p.Arg2157Trp)
NM_001205293.3(CACNA1E):c.6512C>G (p.Ser2171Cys)
NM_001205293.3(CACNA1E):c.6521C>T (p.Ser2174Phe) rs2102910660
NM_001205293.3(CACNA1E):c.6527T>G (p.Ile2176Ser)
NM_001205293.3(CACNA1E):c.6559G>A (p.Asp2187Asn)
NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)
NM_001205293.3(CACNA1E):c.6578C>T (p.Ser2193Phe)
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn) rs1662014050
NM_001205293.3(CACNA1E):c.6610A>G (p.Asn2204Asp)
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr) rs369634310
NM_001205293.3(CACNA1E):c.6682A>C (p.Ile2228Leu) rs747103027
NM_001205293.3(CACNA1E):c.6722C>T (p.Ala2241Val)
NM_001205293.3(CACNA1E):c.6734G>T (p.Gly2245Val)
NM_001205293.3(CACNA1E):c.6820C>T (p.His2274Tyr) rs2102912952
NM_001205293.3(CACNA1E):c.6850C>T (p.Arg2284Trp) rs770456006
NM_001205293.3(CACNA1E):c.6875G>A (p.Gly2292Glu) rs2102913409
NM_001205293.3(CACNA1E):c.6883A>T (p.Met2295Leu) rs377536482
NM_001205293.3(CACNA1E):c.6905A>G (p.Asn2302Ser) rs1662051174

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