ClinVar Miner

List of variants in gene CACNA1G reported as pathogenic for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

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_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)	rs886041505
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val)	rs1555558553

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