ClinVar Miner

List of variants in gene CACNA1E studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.1225+78A>G rs12407563 0.84631
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.2298-97C>T rs2280865 0.43240
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.5073C>T (p.Asn1691=) rs199930 0.24827
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.2577T>A (p.Asp859Glu) rs35737760 0.12668
NM_001205293.3(CACNA1E):c.1056-8G>A rs17743547 0.12468
NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=) rs17443123 0.10021
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.3263-15G>A rs11808627 0.02783
NM_001205293.3(CACNA1E):c.3732-14C>T rs2293991 0.02361
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.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.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.6399+3G>A rs377238885 0.00297
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.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.954C>T (p.Thr318=) rs147221625 0.00138
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=) rs3856089 0.00131
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.1171+13G>A rs367834352 0.00088
NM_001205293.3(CACNA1E):c.4212A>G (p.Val1404=) rs61731221 0.00086
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=) rs115927746 0.00085
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.2124C>T (p.Asn708=) rs372607441 0.00061
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.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.2492G>C (p.Arg831Thr) rs773503365 0.00045
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00045
NM_001205293.3(CACNA1E):c.3263-13G>A rs368969096 0.00040
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.3012C>A (p.Thr1004=) rs377234151 0.00029
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.617-16C>T rs113730525 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.6483C>T (p.Pro2161=) rs370456526 0.00024
NM_001205293.3(CACNA1E):c.3540G>A (p.Ser1180=) rs376599965 0.00021
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.6721G>A (p.Ala2241Thr) rs202118773 0.00015
NM_001205293.3(CACNA1E):c.1113G>A (p.Arg371=) rs1364900476 0.00014
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr) rs560469774 0.00014
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.3731+13G>A rs372306099 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.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.2980G>A (p.Gly994Arg) rs148719824 0.00008
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.3327G>A (p.Glu1109=) rs376421930 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.2421G>A (p.Pro807=) rs368794137 0.00006
NM_001205293.3(CACNA1E):c.2765G>A (p.Arg922Gln) rs199820931 0.00006
NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val) rs570189573 0.00006
NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr) rs756661624 0.00006
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His) rs372520364 0.00006
NM_001205293.3(CACNA1E):c.639C>T (p.Ser213=) rs375614479 0.00006
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) rs762766720 0.00006
NM_001205293.3(CACNA1E):c.3270C>T (p.Asn1090=) rs768466014 0.00005
NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=) rs369610414 0.00004
NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His) rs777347120 0.00003
NM_001205293.3(CACNA1E):c.2555G>A (p.Arg852His) rs538192254 0.00003
NM_001205293.3(CACNA1E):c.4102G>A (p.Val1368Ile) rs574530214 0.00003
NM_001205293.3(CACNA1E):c.5258G>A (p.Arg1753Gln) rs371470806 0.00003
NM_001205293.3(CACNA1E):c.5524A>G (p.Ile1842Val) rs761790010 0.00003
NM_001205293.3(CACNA1E):c.5787-17T>C rs747757024 0.00003
NM_001205293.3(CACNA1E):c.6864C>T (p.Arg2288=) rs768838447 0.00003
NM_001205293.3(CACNA1E):c.246C>G (p.Ala82=) rs945252835 0.00002
NM_001205293.3(CACNA1E):c.3032C>T (p.Pro1011Leu) rs765443815 0.00002
NM_001205293.3(CACNA1E):c.3696C>T (p.Gly1232=) rs755064825 0.00002
NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu) rs758128368 0.00002
NM_001205293.3(CACNA1E):c.6228C>T (p.His2076=) rs376436823 0.00002
NM_001205293.3(CACNA1E):c.6516C>T (p.Tyr2172=) rs756099099 0.00002
NM_001205293.3(CACNA1E):c.6611A>G (p.Asn2204Ser) rs923912118 0.00002
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter) rs1484841139 0.00001
NM_001205293.3(CACNA1E):c.1256G>A (p.Arg419Gln) rs866035995 0.00001
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu) rs377297262 0.00001
NM_001205293.3(CACNA1E):c.1843G>A (p.Val615Ile) rs746915512 0.00001
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu) rs1219232478 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val) rs1320817023 0.00001
NM_001205293.3(CACNA1E):c.2755C>T (p.Arg919Trp) rs769941881 0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His) rs373971175 0.00001
NM_001205293.3(CACNA1E):c.3214G>A (p.Val1072Ile) rs553844010 0.00001
NM_001205293.3(CACNA1E):c.3253G>A (p.Val1085Met) rs768308084 0.00001
NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val) rs772170723 0.00001
NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met) rs767620162 0.00001
NM_001205293.3(CACNA1E):c.3838G>A (p.Asp1280Asn) rs1169304498 0.00001
NM_001205293.3(CACNA1E):c.4187G>A (p.Arg1396His) rs776066299 0.00001
NM_001205293.3(CACNA1E):c.4433C>T (p.Pro1478Leu) rs760888096 0.00001
NM_001205293.3(CACNA1E):c.513-15449G>A rs1649408073 0.00001
NM_001205293.3(CACNA1E):c.616+3G>A rs1318284235 0.00001
NM_001205293.3(CACNA1E):c.6296G>A (p.Arg2099His) rs1558404790 0.00001
NM_001205293.3(CACNA1E):c.6865G>A (p.Gly2289Arg) rs750533768 0.00001
NM_001205293.3(CACNA1E):c.6901A>G (p.Asn2301Asp) rs1662050689 0.00001
NM_000721.4(CACNA1E):c.6529C>T (p.Gln2177Ter)
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg) rs2102063243
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.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
NM_001205293.3(CACNA1E):c.110C>G (p.Ala37Gly)
NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala)
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro)
NM_001205293.3(CACNA1E):c.133C>G (p.Gln45Glu)
NM_001205293.3(CACNA1E):c.1422A>T (p.Lys474Asn) rs2102461555
NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe) rs766926616
NM_001205293.3(CACNA1E):c.1580_1581delinsAA (p.Met527Lys) rs1572690989
NM_001205293.3(CACNA1E):c.1621A>G (p.Asn541Asp)
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln) rs535592986
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp) rs1361083258
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr) rs2102499747
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2104G>T (p.Ala702Ser)
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val) rs1654707104
NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly) rs1572706648
NM_001205293.3(CACNA1E):c.2278G>A (p.Glu760Lys)
NM_001205293.3(CACNA1E):c.2288G>A (p.Ser763Asn)
NM_001205293.3(CACNA1E):c.2294A>G (p.His765Arg) rs2102541491
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp) rs1355669731
NM_001205293.3(CACNA1E):c.2317CAC[1] (p.His774del)
NM_001205293.3(CACNA1E):c.231T>G (p.Ile77Met)
NM_001205293.3(CACNA1E):c.2351A>G (p.Gln784Arg)
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1]) rs763708603
NM_001205293.3(CACNA1E):c.2588G>T (p.Arg863Leu)
NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly)
NM_001205293.3(CACNA1E):c.2740C>T (p.His914Tyr)
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile) rs370910420
NM_001205293.3(CACNA1E):c.3015C>G (p.Pro1005=) rs373175706
NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln) rs377580656
NM_001205293.3(CACNA1E):c.3097G>A (p.Ala1033Thr)
NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs) rs2102558297
NM_001205293.3(CACNA1E):c.3190A>G (p.Thr1064Ala)
NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser) rs1007809575
NM_001205293.3(CACNA1E):c.3266G>A (p.Ser1089Asn) rs1656022956
NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)
NM_001205293.3(CACNA1E):c.3505G>A (p.Ala1169Thr)
NM_001205293.3(CACNA1E):c.3512C>T (p.Ala1171Val) rs968528269
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys) rs759093976
NM_001205293.3(CACNA1E):c.3612+226A>G rs1486716719
NM_001205293.3(CACNA1E):c.364C>T (p.Arg122Ter) rs2102618557
NM_001205293.3(CACNA1E):c.3656G>A (p.Arg1219Gln)
NM_001205293.3(CACNA1E):c.3697G>A (p.Ala1233Thr)
NM_001205293.3(CACNA1E):c.3719+1G>A
NM_001205293.3(CACNA1E):c.3898A>C (p.Met1300Leu)
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln) rs2102682130
NM_001205293.3(CACNA1E):c.3976G>A (p.Glu1326Lys)
NM_001205293.3(CACNA1E):c.4004A>T (p.Asp1335Val) rs1658058398
NM_001205293.3(CACNA1E):c.4081G>T (p.Ala1361Ser)
NM_001205293.3(CACNA1E):c.4101C>T (p.Thr1367=) rs147656925
NM_001205293.3(CACNA1E):c.4165C>T (p.Arg1389Ter) rs2102689215
NM_001205293.3(CACNA1E):c.4184A>G (p.Asn1395Ser) rs2102689310
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe) rs2102689621
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn) rs2102689660
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg) rs1553345844
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=) rs2102718155
NM_001205293.3(CACNA1E):c.4661T>G (p.Ile1554Ser)
NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu)
NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser)
NM_001205293.3(CACNA1E):c.4871T>C (p.Ile1624Thr)
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.494_497dup (p.Val167fs)
NM_001205293.3(CACNA1E):c.498C>G (p.Ile166Met)
NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met) rs1666159827
NM_001205293.3(CACNA1E):c.5140-12del rs752600141
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly) rs2102795834
NM_001205293.3(CACNA1E):c.5470+11_5470+15del rs3830692
NM_001205293.3(CACNA1E):c.549C>T (p.His183=) rs750697056
NM_001205293.3(CACNA1E):c.5677C>G (p.Gln1893Glu)
NM_001205293.3(CACNA1E):c.5795G>A (p.Arg1932Gln)
NM_001205293.3(CACNA1E):c.5816G>T (p.Ser1939Ile) rs1661203470
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=) rs35611740
NM_001205293.3(CACNA1E):c.5990G>T (p.Arg1997Met) rs544113218
NM_001205293.3(CACNA1E):c.6095C>T (p.Ser2032Leu)
NM_001205293.3(CACNA1E):c.6230G>A (p.Arg2077His) rs759720068
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln) rs758936777
NM_001205293.3(CACNA1E):c.6272A>G (p.His2091Arg) rs1553361072
NM_001205293.3(CACNA1E):c.6310G>A (p.Glu2104Lys) rs1553361137
NM_001205293.3(CACNA1E):c.6341C>T (p.Pro2114Leu) rs759886074
NM_001205293.3(CACNA1E):c.6500G>T (p.Arg2167Leu)
NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)
NM_001205293.3(CACNA1E):c.6574G>C (p.Gly2192Arg) rs2102911119
NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg)
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn) rs1662014050
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr) rs369634310
NM_001205293.3(CACNA1E):c.6757G>A (p.Glu2253Lys)
NM_001205293.3(CACNA1E):c.6818G>A (p.Arg2273Gln) rs866037100
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro) rs1553286282
NM_001205293.3(CACNA1E):c.6854G>A (p.Arg2285Gln)
NM_001205293.3(CACNA1E):c.6869G>T (p.Gly2290Val)
NM_001205293.3(CACNA1E):c.6922G>C (p.Glu2308Gln)
NM_001205293.3(CACNA1E):c.802T>C (p.Cys268Arg)
NM_001205293.3(CACNA1E):c.951+29674C>T rs1654651595
NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]

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