List of variants reported as pathogenic for cerebellar degeneration by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	rs201346271	0.00001
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)	rs1575206357
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	rs2124927471
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)	rs397515475
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	rs1554985851
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	rs80356538

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