List of variants in gene CACNA1A reported as 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter)	rs1431177448
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)	rs1064795856
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys)	rs2057842904
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs)	rs2057740525
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	rs121908230
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp)	rs2056602306
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs)	rs2056602254
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)	rs121908220

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