ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic for Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42

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Gene type:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr) rs577006493 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NC_000019.10:g.(?_13298534)_(13300666_?)del
NC_000019.10:g.(?_13300530)_(13300676_?)del
NC_000019.10:g.(?_13359586)_(13359819_?)del
NC_000019.9:g.(?_13318860)_(13325442_?)del
NC_000019.9:g.(?_13335461)_(13342694_?)del
NC_000019.9:g.(?_13338225)_(13342694_?)del
NC_000019.9:g.(?_13339493)_(13341043_?)del
NC_000019.9:g.(?_13339493)_(13373667_?)del
NC_000019.9:g.(?_13342504)_(13342694_?)del
NC_000019.9:g.(?_13368144)_(13368385_?)del
NC_000019.9:g.(?_13370358)_(13373667_?)del
NC_000019.9:g.(?_13386644)_(13386790_?)del
NC_000019.9:g.(?_13394061)_(13397800_?)del
NC_000019.9:g.(?_13409338)_(13411490_?)del
NC_000019.9:g.(?_13414350)_(13418678_?)del
NC_000019.9:g.(?_13418576)_(13419362_?)del
NC_000019.9:g.(?_13418576)_(13423615_?)del
NC_000019.9:g.(?_13427906)_(13617038_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)del
NC_000019.9:g.(?_13470400)_(13482613_?)del
NC_000019.9:g.(?_13476111)_(13476303_?)del
NC_000019.9:g.(?_13563670)_(13574132_?)del
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs) rs2145192572
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) rs1600353301
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) rs1568528298
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) rs767432719
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) rs1568528144
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter) rs2145030772
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) rs2145030587
NM_001127222.2(CACNA1A):c.1617del (p.Thr542fs)
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) rs1555759066
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) rs2057953268
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs)
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1914-10_2172+10del
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) rs2057842904
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) rs940460024
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs)
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) rs1555756737
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) rs1555756461
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) rs2057739636
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter) rs1231997862
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) rs1600274038
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter)
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) rs1420078244
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) rs1555756130
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2837_2844del (p.Ser946fs)
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs) rs2144954299
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs)
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer) rs2144952476
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs)
NM_001127222.2(CACNA1A):c.3089+1G>A rs2057717676
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs) rs2144889523
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs)
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs) rs2144888569
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) rs1568494824
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs)
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs) rs2144880750
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs)
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys) rs1555751762
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs) rs2144839766
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs) rs2144772838
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) rs1568470104
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp) rs2056674737
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs) rs2144758193
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
NM_001127222.2(CACNA1A):c.4389-1G>C rs1360397142
NM_001127222.2(CACNA1A):c.4389-2A>C
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) rs1555743942
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser) rs2144748340
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter) rs2144735303
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs) rs1599289383
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs) rs2144726142
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)
NM_001127222.2(CACNA1A):c.4950+1G>T rs1568457080
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) rs1600139005
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs)
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.526del (p.Val176fs) rs2144936041
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs) rs2144622488
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs) rs2144622191
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del rs1431092862
NM_001127222.2(CACNA1A):c.5529-1214del rs2144616676
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.5529-1268C>A rs765557914
NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs) rs1600114562
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)
NM_001127222.2(CACNA1A):c.6050+4_6050+7del rs2054856814
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs) rs1158454977
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter) rs2144506487
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs) rs2144506286
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs)
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs)
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer)
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) rs771682941
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs) rs2145245392
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu) rs1599276954
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) rs1599276830
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)

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