List of variants reported as pathogenic for cerebellar ataxia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	rs397515379	0.00010
NM_000144.5(FXN):c.3G>T (p.Met1Ile)	rs104894108	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000370.3(TTPA):c.19del (p.Gln7fs)	rs760014795
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226

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