List of variants in gene SACS reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	rs281865120	0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)	rs994374354	0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	rs145766983	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs)	rs281865117	0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	rs886041949	0.00001
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.Asp1425_Ile1426insAlaTer)	rs1555252433
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter)	rs886041813
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)	rs765361868
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)	rs757872635
NM_014363.6(SACS):c.8340del (p.His2781fs)	rs753958013
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	rs767871841

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