List of variants in gene CACNA1A reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
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.2813dup (p.Ser939fs)	rs587776694
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln)	rs886037944
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs)	rs587776692
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)	rs121909323
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	rs121908230
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)	rs121908237
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser)	rs121908233
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser)	rs886037946
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs)	rs587776695
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)	rs121908226
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	rs121908214
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter)	rs267606696
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.860G>A (p.Cys287Tyr)	rs121908236
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	rs121908215

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