ClinVar Miner

List of variants in gene CACNA1A studied for Global developmental delay; Enlarged cisterna magna

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247

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