ClinVar Miner

List of variants reported as uncertain significance for Charlevoix-Saguenay spastic ataxia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
NM_014363.6(SACS):c.4268A>G (p.His1423Arg) rs2137629036
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) rs2137599038

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