List of variants in gene CACNA1A reported as likely pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)	rs779576853	0.00001
NM_001127222.2(CACNA1A):c.3692+1G>A	rs1315533129
NM_001127222.2(CACNA1A):c.3882+2T>C	rs2057168559
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)	rs1568447650
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)	rs1064794261
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	rs1555736565
NM_001127222.2(CACNA1A):c.631+5G>A	rs786200963
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764

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