ClinVar Miner

List of variants studied for Spinocerebellar ataxia 27A by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.529A>T (p.Lys177Ter) rs1555370787

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