List of variants reported as pathogenic for autosomal dominant cerebellar ataxia by Mendelics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)	rs797044955
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)	rs1576691273
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)	rs2149989087
NM_181882.3(PRX):c.3198del (p.Phe1066fs)	rs1599651549
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)	rs964195568
NM_181882.3(PRX):c.3587del (p.Gly1196fs)	rs1317590341

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