ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia 43 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	rs149905705	0.00008
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007289.4(MME):c.594dup (p.Val199fs)	rs1254522989

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