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

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Total variants: 11

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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_006612.6(KIF1C):c.3055C>T (p.Arg1019Trp)
NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)
NM_006796.3(AFG3L2):c.361A>C (p.Lys121Gln)
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
NM_138395.4(MARS2):c.504G>A (p.Trp168Ter)

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