ClinVar Miner

List of variants studied for X-linked progressive cerebellar ataxia by Centogene AG - the Rare Disease Company

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln) rs201426629 0.00003
NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His) rs1557010446 0.00001

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