ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by OMIM

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Total variants: 31
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HGVS dbSNP
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
NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) rs121908217
NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) rs121908212
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.2816dup (p.Ser940fs) rs587776694
NM_001127221.1(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127221.1(CACNA1A):c.3797del (p.Pro1266fs) rs587776692
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.4151A>G (p.Tyr1384Cys) rs121908219
NM_001127221.1(CACNA1A):c.4208T>G (p.Phe1403Cys) rs121908227
NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) rs121908237
NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser) rs121908233
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.Val1617fs) rs587776695
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
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.5428A>C (p.Ile1810Leu) rs121908214
NM_001127221.1(CACNA1A):c.5455C>T (p.Arg1819Ter) rs267606696
NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
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

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