ClinVar Miner

List of variants in gene SACS reported as pathogenic by GeneDx

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Total variants: 10
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NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) rs1555252433
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411

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