List of variants in gene CACNA1A reported as likely pathogenic by Mendelics

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met)	rs1600198481
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)	rs2056510928
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)	rs1599292631
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)	rs121908225

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