ClinVar Miner

List of variants in gene SACS reported by Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_014363.5:c.[1640C>T;1634G>T]
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024

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