List of variants reported as pathogenic for cerebellar disorder by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)	rs370880399	0.00011
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)	rs786203983	0.00004
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)	rs1568523843
NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)

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