ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic for Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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Total variants: 4
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HGVS dbSNP
NM_033071.3(SYNE1):c.12371delA (p.Lys4124Argfs) rs886042380
NM_033071.3(SYNE1):c.1240_1241delCT (p.Leu414Serfs)
NM_033071.3(SYNE1):c.15705-12A>G rs606231134
NM_033071.3(SYNE1):c.17002C>T (p.Gln5668Ter)

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