List of variants reported as pathogenic for spastic ataxia 10, autosomal recessive by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016035.5(COQ4):c.376G>A (p.Glu126Lys)	rs149398860	0.00030
NM_016035.5(COQ4):c.202+4A>C	rs777821562	0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys)	rs371984550	0.00003
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser)	rs776825296	0.00003
NM_016035.5(COQ4):c.473G>A (p.Arg158Gln)	rs779805523	0.00003
NM_016035.5(COQ4):c.533G>A (p.Gly178Glu)	rs754865584	0.00002
NM_016035.5(COQ4):c.305G>A (p.Arg102His)	rs929713295	0.00001
NM_016035.5(COQ4):c.402+1G>C	rs747779231
NM_016035.5(COQ4):c.433C>T (p.Arg145Cys)
NM_016035.5(COQ4):c.434G>A (p.Arg145His)
NM_016035.5(COQ4):c.719G>A (p.Arg240His)
NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)
NM_016035.5(COQ4):c.87dup (p.Arg30Ter)

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