List of variants in gene CACNA1A reported as likely pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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.574C>T (p.Arg192Trp)	rs1057518779	0.00001
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)	rs2057372365
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)	rs1555736565

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