List of variants in gene SACS reported as likely 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)	rs1440541889	0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)	rs946368716	0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)	rs911764681	0.00001
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	rs141315518
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)	rs923921184
NM_014363.6(SACS):c.2475dup (p.Val826fs)	rs1555252909
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter)	rs1085307587
NM_014363.6(SACS):c.712A>T (p.Lys238Ter)	rs764585158
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs)	rs1064796097
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)	rs772704931

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