ClinVar Miner

List of variants reported as pathogenic for Episodic ataxia type 2

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
GRCh38/hg38 19p13.13(chr19:13408530-13493692)x1
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del
NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NC_000019.10:g.(13359800_13371688)_(13371779_13505931)del
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs) rs1555762869
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
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.3039C>G (p.Tyr1013Ter) rs1568507151
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) rs1600242882
NM_001127222.2(CACNA1A):c.3692+1G>T rs1315533129
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.3989+1G>A rs587776693
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.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4089+2T>G rs1600198365
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) rs121908227
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.4633C>T (p.Arg1545Ter) rs121909324
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.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro)
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) rs121908226
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) rs2144559262
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
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)
nsv1067873

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