ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 27 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)	rs757752994	0.00001
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)	rs2035466147

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