ClinVar Miner

List of variants in gene CACNA1A studied for Episodic ataxia type 2

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Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64420
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
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.2899G>A (p.Glu967Lys) rs1555755929 0.00001
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala) rs773766180 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NM_001127221.2(CACNA1A):c.5605T>C (p.Cys1869Arg) rs121908244
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe) rs121908239
NM_001127222.2(CACNA1A):c.1198+4A>G
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs) rs2145051267
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs) rs1555762869
NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro)
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp) rs121908246
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
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.203G>T (p.Arg68Leu)
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs) rs1568514371
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile) rs2057841232
NM_001127222.2(CACNA1A):c.2098G>A (p.Gly700Arg)
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg)
NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu)
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr) rs121908241
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter) rs2057736834
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs) rs587776694
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs) rs786200962
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter) rs1568507151
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu)
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3515dup (p.Ala1173fs)
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu) rs201789073
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) rs1600242882
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val) rs1555789420
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3692+1G>T rs1315533129
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) rs1568493323
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys)
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs) rs587776692
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter) rs774224202
NM_001127222.2(CACNA1A):c.3990-9_3991dup
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) rs1600198481
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4089+2T>G rs1600198365
NM_001127222.2(CACNA1A):c.4314T>G (p.Tyr1438Ter)
NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg) rs121908232
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) rs2056600391
NM_001127222.2(CACNA1A):c.4591-2A>G rs1600180659
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe)
NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs) rs587776695
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
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.5000del (p.Leu1667fs)
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.5089dup (p.Leu1697fs)
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5133+5G>A rs2144647781
NM_001127222.2(CACNA1A):c.5204A>T (p.His1735Leu) rs121908229
NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro)
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) rs121908226
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) rs2144559262
NM_001127222.2(CACNA1A):c.607C>G (p.Leu203Val) rs2144559245
NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val)
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6303+1G>A rs1600088360
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) rs1599292631
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) rs121908225
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln) rs775606907
NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) rs1199275549
NM_001127222.2(CACNA1A):c.743A>G (p.Tyr248Cys) rs121908238
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.766T>C (p.Cys256Arg) rs121908231
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)

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