ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys) rs2137547970
NM_014363.6(SACS):c.5972dup (p.Arg1992fs) rs2137613912
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr) rs2137612456

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