List of variants reported as likely pathogenic for cerebellar ataxia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	rs72551317	0.00001
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)	rs2125159710
NM_014363.6(SACS):c.13622dup (p.Leu4541fs)
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu)	rs2137718533
NM_014363.6(SACS):c.5627T>A (p.Leu1876Ter)
NM_014363.6(SACS):c.9590del (p.Ser3197fs)
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer)	rs2141837067
NM_198994.3(TGM6):c.850+1G>A

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