ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic for not provided

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Gene type:
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Total variants: 108
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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.848A>G (p.Asn283Ser) rs1212952550 0.00001
GRCh37/hg19 19p13.2(chr19:13374979-13388396)x1
NM_001127221.2(CACNA1A):c.2900_2925dup (p.Ala978fs) rs2144953455
NM_001127222.2(CACNA1A):c.1083-2A>G
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter) rs1431177448
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs)
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.1781del (p.Lys594fs) rs1600293149
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) rs1064795856
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.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.202C>T (p.Arg68Ter)
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) rs886041654
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs) rs2057740525
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) rs1420078244
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter) rs1555756161
NM_001127222.2(CACNA1A):c.2764C>T (p.Arg922Ter) rs2144954990
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001127222.2(CACNA1A):c.2903del (p.Gly968fs) rs1555755926
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.2974G>T (p.Glu992Ter) rs2057722066
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs) rs2057721188
NM_001127222.2(CACNA1A):c.3039C>A (p.Tyr1013Ter) rs1568507151
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs) rs1131691712
NM_001127222.2(CACNA1A):c.3154C>T (p.Gln1052Ter) rs1568495944
NM_001127222.2(CACNA1A):c.3169del (p.Gln1057fs)
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs) rs1555753042
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter) rs201612257
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) rs1568493323
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.400-1G>A
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
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.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4067T>G (p.Ile1356Ser) rs886041541
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp) rs2056602306
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs) rs2056602254
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4501_4503del (p.Phe1501del) rs1131691374
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter) rs1600180457
NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs) rs1600180395
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs) rs1599289383
NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs) rs2144726274
NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs) rs2144726226
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs) rs2056443833
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.4950+3662G>T rs1600152215
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.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.526del (p.Val176fs) rs2144936041
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) rs2144629622
NM_001127222.2(CACNA1A):c.5342del (p.Cys1781fs) rs1600130724
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter) rs267606696
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.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs) rs2144536044
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter) rs1355062450
NM_001127222.2(CACNA1A):c.6097C>T (p.Gln2033Ter) rs2144524927
NM_001127222.2(CACNA1A):c.6114del (p.Met2038fs) rs1064796199
NM_001127222.2(CACNA1A):c.6147_6163del (p.Gln2049fs) rs2144524536
NM_001127222.2(CACNA1A):c.6151_6152insT (p.Pro2051fs)
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs) rs1158454977
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6340-1G>C
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.6489dup (p.Glu2164Ter) rs1555730801
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter) rs2054683190
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter) rs2059069286
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480

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