ClinVar Miner

List of variants reported as pathogenic for autosomal recessive spinocerebellar ataxia 18 by OMIM

Included ClinVar conditions (1):

Autosomal recessive spinocerebellar ataxia 18

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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
NC_000004.12:g.92491792_92826931del
NC_000004.12:g.92559959_92610106del
NC_000004.12:g.93013415_93157863del
NM_001510.3(GRID2):c.530-12057_735+24661del36924

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