ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic

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Gene type:
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Total variants: 105
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HGVS dbSNP
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NC_000019.10:g.(?_13359586)_(13359819_?)del
NG_011569.1:g.(139774_151662)_(151855_175551)del
NG_011569.1:g.(139774_151662)_(151855_175551)dup
NG_011569.1:g.(210912_224495)_(286794_296852)del
NM_000068.3(CACNA1A):c.2009G>A (p.Trp670Ter) rs1555757537
NM_000068.3(CACNA1A):c.2746C>T (p.Gln916Ter) rs1555756161
NM_000068.3(CACNA1A):c.3227del (p.Lys1076Serfs) rs1555753042
NM_000068.3(CACNA1A):c.3704+1G>A
NM_000068.3(CACNA1A):c.3704dup (p.Leu1236Profs)
NM_000068.3(CACNA1A):c.3855C>G (p.Tyr1285Ter)
NM_000068.3(CACNA1A):c.3937dup (p.Arg1313Profs)
NM_000068.3(CACNA1A):c.4045C>T (p.Arg1349Ter)
NM_000068.3(CACNA1A):c.41del (p.Gly14Glufs) rs1555797179
NM_000068.3(CACNA1A):c.439G>A (p.Glu147Lys)
NM_000068.3(CACNA1A):c.6046C>T (p.Gln2016Ter) rs1355062450
NM_001127221.1(CACNA1A):c.1082+1G>A rs1272886269
NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter) rs886039668
NM_001127221.1(CACNA1A):c.1415dup (p.Glu473Glyfs)
NM_001127221.1(CACNA1A):c.1442delG (p.Arg481Profs) rs1555762908
NM_001127221.1(CACNA1A):c.1472G>A (p.Trp491Ter)
NM_001127221.1(CACNA1A):c.1482_1483del (p.Ser495Phefs) rs1555762869
NM_001127221.1(CACNA1A):c.1503_1524delGCTGTGTGTTGCTATTGTTCAC (p.Leu502Thrfs) rs1555762855
NM_001127221.1(CACNA1A):c.1637dup (p.Tyr546Terfs)
NM_001127221.1(CACNA1A):c.1704G>A (p.Trp568Ter) rs1555759066
NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) rs121908217
NM_001127221.1(CACNA1A):c.1915C>T (p.Gln639Ter) rs1555758842
NM_001127221.1(CACNA1A):c.1925delT (p.Phe642Serfs)
NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) rs121908212
NM_001127221.1(CACNA1A):c.2042_2043delAG (p.Gln681Argfs) rs1064794262
NM_001127221.1(CACNA1A):c.2042delA (p.Gln681Argfs) rs1555757523
NM_001127221.1(CACNA1A):c.2130G>T (p.Leu710Phe) rs886041654
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala) rs121908213
NM_001127221.1(CACNA1A):c.2145C>A (p.Asp715Glu) rs121908218
NM_001127221.1(CACNA1A):c.2194G>T (p.Glu732Ter) rs1555756737
NM_001127221.1(CACNA1A):c.2320_2322delGTGinsAC (p.Val774Thrfs) rs1555756461
NM_001127221.1(CACNA1A):c.2340_2341insCAAGTCCGTGTGGGAGCAGCGGACCAGT (p.Glu781Glnfs) rs1057520154
NM_001127221.1(CACNA1A):c.2542C>T (p.Gln848Ter) rs1420078244
NM_001127221.1(CACNA1A):c.2758G>T (p.Glu920Ter) rs1555756130
NM_001127221.1(CACNA1A):c.2788_2789insT (p.His930Leufs) rs1555756091
NM_001127221.1(CACNA1A):c.2806_2816dup (p.Ser940Glyfs)
NM_001127221.1(CACNA1A):c.2809C>T (p.Gln937Ter) rs1318353774
NM_001127221.1(CACNA1A):c.2816dup (p.Ser940Glnfs) rs587776694
NM_001127221.1(CACNA1A):c.2847_2856delCACGGGCGCG (p.Ala952Serfs) rs1555755977
NM_001127221.1(CACNA1A):c.2906delG (p.Gly969Valfs) rs1555755926
NM_001127221.1(CACNA1A):c.2907_2932delTCCGGAGGACAAGGCGGAGCGGAGGG (p.Pro970Alafs) rs1555755909
NM_001127221.1(CACNA1A):c.2961_2962dup (p.Arg988Profs) rs1555755878
NM_001127221.1(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127221.1(CACNA1A):c.3106dup (p.Ser1036Phefs) rs1131691712
NM_001127221.1(CACNA1A):c.3157C>T (p.Gln1053Ter)
NM_001127221.1(CACNA1A):c.3414del (p.Lys1139Argfs) rs746790849
NM_001127221.1(CACNA1A):c.3535dupC (p.Leu1179Profs) rs757953057
NM_001127221.1(CACNA1A):c.3797del (p.Pro1266Leufs) rs587776692
NM_001127221.1(CACNA1A):c.3825+1G>A rs794727355
NM_001127221.1(CACNA1A):c.3832C>T (p.Arg1278Ter) rs121909323
NM_001127221.1(CACNA1A):c.3992+1G>A rs587776693
NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) rs121908230
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.4054C>T (p.Arg1352Ter)
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4070T>G (p.Ile1357Ser) rs886041541
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4099T>A (p.Phe1367Ile) rs1057520749
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) rs121908219
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4177G>C (p.Val1393Leu) rs794727411
NM_001127221.1(CACNA1A):c.4208T>G (p.Phe1403Cys) rs121908227
NM_001127221.1(CACNA1A):c.4294C>T (p.Arg1432Ter)
NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) rs121908237
NM_001127221.1(CACNA1A):c.4429C>T (p.Gln1477Ter) rs1555743942
NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser) rs121908233
NM_001127221.1(CACNA1A):c.4503_4505delCTT (p.Phe1502del) rs886041279
NM_001127221.1(CACNA1A):c.4504_4506delTTT (p.Phe1502del) rs1131691374
NM_001127221.1(CACNA1A):c.4522G>T (p.Ala1508Ser) rs886037946
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127221.1(CACNA1A):c.4845del (p.Val1617Serfs) rs587776695
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.4953+1G>T
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4990C>T (p.Arg1664Ter) rs1555738369
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) rs121908220
NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) rs121908243
NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr) rs121909326
NM_001127221.1(CACNA1A):c.5266G>A (p.Glu1756Lys) rs121908226
NM_001127221.1(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127221.1(CACNA1A):c.5396C>T (p.Ser1799Leu) rs1064794261
NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) rs121908214
NM_001127221.1(CACNA1A):c.5455C>T (p.Arg1819Ter) rs267606696
NM_001127221.1(CACNA1A):c.5559_5560delCA (p.Tyr1853Terfs)
NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127221.1(CACNA1A):c.6158dup (p.Thr2054Tyrfs) rs1158454977
NM_001127221.1(CACNA1A):c.6205C>T (p.Arg2069Ter)
NM_001127221.1(CACNA1A):c.6371delG (p.Arg2124Leufs) rs1555730902
NM_001127221.1(CACNA1A):c.6400C>T (p.Arg2134Ter) rs1555730878
NM_001127221.1(CACNA1A):c.6492dup (p.Glu2165Terfs) rs1555730801
NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127221.1(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127221.1(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.1(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001174080.1(CACNA1A):c.2868delT (p.Arg957Aspfs) rs786200962
NM_023035.2(CACNA1A):c.3704+1G>T
NM_023035.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764

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