List of variants reported as pathogenic for Spinocerebellar ataxia 27A

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001321932.1(FGF14):c.4+1G>A
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)	rs104894393
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)	rs865878627
NM_004115.4(FGF14):c.487del (p.Arg163fs)	rs587776685
NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)	rs1555370787

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