ClinVar Miner

List of variants reported as benign for X-linked progressive cerebellar ataxia by Genome-Nilou Lab

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001001344.3(ATP2B3):c.2839+33A>G rs2980018 0.99672
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_001001344.3(ATP2B3):c.664+41G>A rs762733 0.76378
NM_001001344.3(ATP2B3):c.1824-58G>A rs2239682 0.43153
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_001001344.3(ATP2B3):c.3160-57A>G rs4243536
NM_001001344.3(ATP2B3):c.665-116A>G rs2980012

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