List of variants in gene SACS, SGCG studied for Charlevoix-Saguenay spastic ataxia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)	rs1800354	0.83747
NM_000231.3(SGCG):c.705T>C (p.Leu235=)	rs1800353	0.60006
NM_000231.3(SGCG):c.*295T>C	rs3829352	0.37163
NM_014363.6(SACS):c.*484T>C	rs4770433	0.36808
NM_000231.3(SGCG):c.*254G>A	rs3751371	0.31172
NM_000231.3(SGCG):c.*13C>T	rs9510701	0.05421
NM_014363.6(SACS):c.*677C>T	rs200375761	0.00014
NM_000231.3(SGCG):c.*136T>C	rs3751372
NM_014363.6(SACS):c.*1046CTTTA[1]	rs66920661

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