List of variants in gene CACNA1A reported as pathogenic by Genetic Services Laboratory, University of Chicago

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs)	rs1555762869
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.3411del (p.Lys1138fs)	rs746790849
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.5529-1268C>A	rs765557914
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)	rs121908225

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