ClinVar Miner

List of variants reported as pathogenic for spinocerebellar ataxia type 42

Included ClinVar conditions (3):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)	rs755221106

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