List of variants reported as likely pathogenic for cerebellar ataxia by MGZ Medical Genetics Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)	rs372535542	0.00002
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)	rs773379832	0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)	rs29001665	0.00001
NC_012920.1(MT-ATP6):m.9049G>A	rs1603222011
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)	rs2125159664
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)	rs2122988567
NM_014363.6(SACS):c.11261del (p.Asn3754fs)
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)	rs797044995
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)	rs866551482

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