ClinVar Miner

List of variants studied for X-linked progressive cerebellar ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
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.2592G>C (p.Val864=) rs2269415 0.41962
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320

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