List of variants reported as pathogenic for cerebellar ataxia by Codex Genetics Limited

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)	rs387907097	0.00006
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	rs121918511
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)	rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	rs80356538
NM_182961.4(SYNE1):c.[20263C>T;8889del]

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