List of variants in gene CACNA1A reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)	rs16020	0.00616
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	0.00451
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	rs16024	0.00390
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)	rs121908242	0.00091
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)	rs756972061	0.00001
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer)	rs1057520154
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)	rs759331923
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)	rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	rs768950814

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