List of variants in gene CACNA1A reported as pathogenic for cardiovascular disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	rs1427473572
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	rs2057947681
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	rs2144979269
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)	rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu)	rs121908218
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	rs2144958410
NM_001127222.2(CACNA1A):c.3990-2A>C
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.4055C>T (p.Pro1352Leu)	rs1064794808
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	rs2056767062
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)	rs121908237
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)	rs886041279
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	rs886037946
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)	rs121908220
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	rs2144649756
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	rs2144629622
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)	rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)	rs121908225
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)	rs2145245595

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