ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive spinocerebellar ataxia 18 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

Autosomal recessive spinocerebellar ataxia 18

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001510.4(GRID2):c.899G>A (p.Arg300His)	rs201635818	0.00003
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del

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