ClinVar Miner

List of variants in gene SACS reported as pathogenic by Athena Diagnostics Inc

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Total variants: 10
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NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.699del (p.Asp235fs)
NM_014363.6(SACS):c.7374del (p.Met2459fs)
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411

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