ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 69 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 169
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.1225+78A>G rs12407563 0.84631
NM_001205293.3(CACNA1E):c.1316-13T>C rs7540850 0.59859
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 0.24883
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 0.12919
NM_001205293.3(CACNA1E):c.1056-8G>A rs17743547 0.12468
NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=) rs17443123 0.09812
NM_001205293.3(CACNA1E):c.3732-14C>T rs2293991 0.02962
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser) rs41304253 0.02916
NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=) rs34741608 0.02803
NM_001205293.3(CACNA1E):c.3263-15G>A rs11808627 0.02783
NM_001205293.3(CACNA1E):c.4605+12A>C rs9662282 0.01447
NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=) rs34942364 0.01214
NM_001205293.3(CACNA1E):c.373-14C>T rs4083900 0.00898
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 0.00519
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.3989+16G>A rs77439656 0.00383
NM_001205293.3(CACNA1E):c.4329+14G>A rs138957815 0.00365
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00360
NM_001205293.3(CACNA1E):c.4089G>T (p.Leu1363=) rs199667506 0.00349
NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln) rs202202209 0.00332
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys) rs74695054 0.00322
NM_001205293.3(CACNA1E):c.2298-16C>T rs189050461 0.00321
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=) rs111619313 0.00307
NM_001205293.3(CACNA1E):c.6399+3G>A rs377238885 0.00297
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=) rs115093623 0.00262
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=) rs200603172 0.00219
NM_001205293.3(CACNA1E):c.5853T>C (p.Cys1951=) rs374978888 0.00204
NM_001205293.3(CACNA1E):c.5679+10A>C rs77123326 0.00202
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.954C>T (p.Thr318=) rs147221625 0.00138
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=) rs3856089 0.00131
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=) rs182071786 0.00127
NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln) rs201406071 0.00113
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=) rs375338599 0.00111
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=) rs183395195 0.00109
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=) rs183065185 0.00102
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 0.00068
NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu) rs191359537 0.00068
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=) rs182225778 0.00064
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=) rs372607441 0.00061
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00057
NM_001205293.3(CACNA1E):c.1315+12C>G rs373180436 0.00053
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val) rs200469194 0.00050
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001205293.3(CACNA1E):c.5008C>T (p.Leu1670=) rs143906181 0.00046
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00044
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys) rs200113695 0.00043
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00042
NM_001205293.3(CACNA1E):c.3263-13G>A rs368969096 0.00040
NM_001205293.3(CACNA1E):c.5898+10T>C rs375791346 0.00030
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.617-16C>T rs113730525 0.00025
NM_001205293.3(CACNA1E):c.3183C>G (p.Asp1061Glu) rs556267480 0.00024
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 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.6721G>A (p.Ala2241Thr) rs202118773 0.00024
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr) rs560469774 0.00021
NM_001205293.3(CACNA1E):c.3540G>A (p.Ser1180=) rs376599965 0.00021
NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=) rs371345680 0.00021
NM_001205293.3(CACNA1E):c.5267+20G>A rs375721145 0.00021
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile) rs370910420 0.00020
NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met) rs371974841 0.00020
NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu) rs566701744 0.00017
NM_001205293.3(CACNA1E):c.1113G>A (p.Arg371=) rs1364900476 0.00015
NM_001205293.3(CACNA1E):c.4287A>G (p.Gln1429=) rs534133872 0.00015
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.5990G>T (p.Arg1997Met) rs544113218 0.00009
NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln) rs754653742 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.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.3327G>A (p.Glu1109=) rs376421930 0.00008
NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg) rs148719824 0.00007
NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val) rs570189573 0.00007
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.5795G>A (p.Arg1932Gln) rs759385572 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.3270C>T (p.Asn1090=) rs768466014 0.00005
NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=) rs369610414 0.00004
NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala) rs191210738 0.00003
NM_001205293.3(CACNA1E):c.3505G>A (p.Ala1169Thr) rs769961549 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.6228C>T (p.His2076=) rs376436823 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.3696C>T (p.Gly1232=) rs755064825 0.00002
NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu) rs772523843 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.6922G>C (p.Glu2308Gln) rs769144197 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.2755C>T (p.Arg919Trp) rs769941881 0.00001
NM_001205293.3(CACNA1E):c.3097G>A (p.Ala1033Thr) rs1316464121 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.3445A>G (p.Ile1149Val) rs1221504456 0.00001
NM_001205293.3(CACNA1E):c.3838G>A (p.Asp1280Asn) rs1169304498 0.00001
NM_001205293.3(CACNA1E):c.4433C>T (p.Pro1478Leu) rs760888096 0.00001
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe) rs576927174 0.00001
NM_001205293.3(CACNA1E):c.6296G>A (p.Arg2099His) rs1558404790 0.00001
NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys) rs751185780 0.00001
NM_001205293.3(CACNA1E):c.6865G>A (p.Gly2289Arg) rs750533768 0.00001
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.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro) rs551308908
NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe) rs766926616
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln) rs535592986
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2294A>G (p.His765Arg) rs2102541491
NM_001205293.3(CACNA1E):c.2317CAC[1] (p.His774del) rs2528691581
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1]) rs763708603
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.3512C>T (p.Ala1171Val) rs968528269
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys) rs759093976
NM_001205293.3(CACNA1E):c.364C>T (p.Arg122Ter) rs2102618557
NM_001205293.3(CACNA1E):c.3719+1G>A rs753147402
NM_001205293.3(CACNA1E):c.4101C>T (p.Thr1367=) rs147656925
NM_001205293.3(CACNA1E):c.4184A>G (p.Asn1395Ser) rs2102689310
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=) rs2102718155
NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser) rs1658762654
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.5140-12del rs752600141
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.5820A>C (p.Pro1940=) rs35611740
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.6341C>T (p.Pro2114Leu) rs759886074
NM_001205293.3(CACNA1E):c.6574G>C (p.Gly2192Arg) rs2102911119

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.