List of variants reported as pathogenic for cerebellar ataxia by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NC_000004.12:g.(99601399_99613000)del
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)	rs1571636501

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