List of variants in gene CACNA1A reported as likely pathogenic by Ambry Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)	rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu)
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	rs1568447650
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.5134-2A>C
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)	rs1555737113
NM_001127222.2(CACNA1A):c.5941-2A>G	rs1555731992

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