ClinVar Miner

List of variants reported as likely benign for Spinocerebellar ataxia type 13 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)	rs2301357	0.00867
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=)	rs552133569	0.00023
NM_004977.3(KCNC3):c.2170+14C>T	rs189018316

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