List of variants studied for cerebellar ataxia by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met)	rs369469000	0.00001
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu)	rs771028975
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
NM_001278064.2(GRM1):c.26dup (p.Ala11fs)	rs758809498
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln)	rs1571941606
NM_004056.6(CA8):c.100+1G>A	rs1563390893
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu)	rs1284948650
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_015215.4(CAMTA1):c.550G>A (p.Ala184Thr)
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	rs387907132
NM_153816.6(SNX14):c.2506G>T (p.Glu836Ter)

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