ClinVar Miner

List of variants in gene FGF14 reported as pathogenic for Spinocerebellar ataxia type 27

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Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
GRCh37/hg19 13q33.1(chr13:102535482-102815349)x3
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) rs1555370787

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