List of variants reported as likely pathogenic for cerebellar degeneration by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1914dup (p.Asp639fs)	rs2080292910
NM_000051.4(ATM):c.8227_8228del (p.Thr2743fs)	rs2086795898
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)	rs770730338
NM_014363.6(SACS):c.2829dup (p.Leu944fs)	rs1869162207
NM_014363.6(SACS):c.5492del (p.Lys1831fs)	rs1868862742
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)	rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)	rs1064794555
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)	rs2083582255

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