ClinVar Miner

List of variants reported as likely benign for Spinocerebellar ataxia type 5 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	0.00081
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)	rs764447133	0.00002

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