List of variants in gene combination LOC130009366, SACS reported as uncertain significance for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.171+13C>T	rs374672041	0.00347
NM_014363.6(SACS):c.99T>C (p.Asp33=)	rs775206528	0.00019
NM_014363.6(SACS):c.110G>A (p.Arg37His)	rs866539724	0.00006
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)	rs1021024627	0.00006
NM_014363.6(SACS):c.51C>T (p.Cys17=)	rs763979020	0.00005
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)	rs1033188876	0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=)	rs979224977	0.00004
NM_014363.6(SACS):c.47G>T (p.Gly16Val)	rs886050090	0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=)	rs932552006	0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe)	rs1365453773	0.00001
NM_014363.6(SACS):c.141G>A (p.Ser47=)	rs1593160882
NM_014363.6(SACS):c.25G>A (p.Val9Ile)	rs939705811

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