ClinVar Miner

List of variants in gene CACNA1E reported as uncertain significance for Developmental and epileptic encephalopathy, 69

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.2405C>T (p.Ala802Val) rs374689888 0.00012
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) rs762766720 0.00006
NM_001205293.3(CACNA1E):c.2555G>A (p.Arg852His) rs538192254 0.00004
NM_001205293.3(CACNA1E):c.6095C>T (p.Ser2032Leu) rs1049589906 0.00004
NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His) rs777347120 0.00003
NM_001205293.3(CACNA1E):c.3505G>A (p.Ala1169Thr) rs769961549 0.00003
NM_001205293.3(CACNA1E):c.3032C>T (p.Pro1011Leu) rs765443815 0.00002
NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu) rs758128368 0.00002
NM_001205293.3(CACNA1E):c.6854G>A (p.Arg2285Gln) rs775338609 0.00002
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter) rs1484841139 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.218G>A (p.Gly73Glu) rs1219232478 0.00001
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp) rs1355669731 0.00001
NM_001205293.3(CACNA1E):c.2351A>G (p.Gln784Arg) rs1348405478 0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His) rs373971175 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.3262A>G (p.Ile1088Val) rs772170723 0.00001
NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met) rs767620162 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.4187G>A (p.Arg1396His) rs776066299 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.513-15449G>A rs1649408073 0.00001
NM_001205293.3(CACNA1E):c.5677C>G (p.Gln1893Glu) rs768172934 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_001205293.3(CACNA1E):c.110C>G (p.Ala37Gly)
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) rs2528521795
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln) rs535592986
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) rs2528676138
NM_001205293.3(CACNA1E):c.2288G>A (p.Ser763Asn) rs1655445135
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.231T>G (p.Ile77Met) rs1663547680
NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val) rs1320817023
NM_001205293.3(CACNA1E):c.2588G>T (p.Arg863Leu) rs202202209
NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly) rs1481753705
NM_001205293.3(CACNA1E):c.2740C>T (p.His914Tyr) rs2528699354
NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln) rs377580656
NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs) rs2102558297
NM_001205293.3(CACNA1E):c.3190A>G (p.Thr1064Ala) rs2528714861
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.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) rs2528786011
NM_001205293.3(CACNA1E):c.3719+1G>A rs753147402
NM_001205293.3(CACNA1E):c.3898A>C (p.Met1300Leu)
NM_001205293.3(CACNA1E):c.3976G>A (p.Glu1326Lys)
NM_001205293.3(CACNA1E):c.4081G>T (p.Ala1361Ser)
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.4608C>T (p.Asn1536=) rs2102718155
NM_001205293.3(CACNA1E):c.4661T>G (p.Ile1554Ser) rs2529032617
NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser) rs1658762654
NM_001205293.3(CACNA1E):c.4871T>C (p.Ile1624Thr) rs2529074233
NM_001205293.3(CACNA1E):c.494_497dup (p.Val167fs) rs2526621799
NM_001205293.3(CACNA1E):c.498C>G (p.Ile166Met) rs376114074
NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met) rs1666159827
NM_001205293.3(CACNA1E):c.5816G>T (p.Ser1939Ile) rs1661203470
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) rs370385055
NM_001205293.3(CACNA1E):c.6574G>C (p.Gly2192Arg) rs2102911119
NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg) rs777710243
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) rs1490222366
NM_001205293.3(CACNA1E):c.6818G>A (p.Arg2273Gln) rs866037100
NM_001205293.3(CACNA1E):c.6869G>T (p.Gly2290Val)
NM_001205293.3(CACNA1E):c.802T>C (p.Cys268Arg) rs1651428613
NM_001205293.3(CACNA1E):c.951+29674C>T rs1654651595
NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]

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