ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Intellectual disability

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	rs16024	0.00390
NM_001127222.2(CACNA1A):c.1197_1198+6del	rs2058520032

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