ClinVar Miner

List of variants in gene SACS reported by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640

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