ClinVar Miner

List of variants in gene CACNA1E reported as benign for epilepsy

Included ClinVar conditions (438):
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Gene type:
ClinVar version:
Total variants: 74
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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.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.3263-16C>T rs74127837 0.00543
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.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.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.2124C>T (p.Asn708=) rs372607441 0.00061
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.3263-13G>A rs368969096 0.00040
NM_001205293.3(CACNA1E):c.5898+10T>C rs375791346 0.00035
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=) rs377234151 0.00029
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.5267+20G>A rs375721145 0.00021
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.3723C>T (p.Asn1241=) rs762242384 0.00010
NM_001205293.3(CACNA1E):c.5787-17T>C rs747757024 0.00003
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 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.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1]) rs763708603
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile) rs370910420
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.5820A>C (p.Pro1940=) rs35611740

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