ClinVar Miner

List of variants in gene SACS reported as benign by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 8
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NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380

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