List of variants reported as likely pathogenic for cerebellar degeneration by Counsyl

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	rs201114717	0.00010
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	rs376230356	0.00003
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	rs533885672	0.00002
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1263+2T>C	rs777935791	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)	rs72551316	0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	rs72551317	0.00001
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)	rs1178393503
NM_000784.4(CYP27A1):c.1185-2A>C	rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T	rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	rs886041342
NM_000784.4(CYP27A1):c.1264-2A>G	rs1553616478
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs)	rs1553616508
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)	rs374507635
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)	rs1553614310
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800
NM_000784.4(CYP27A1):c.539del (p.Glu180fs)	rs1553616235
NM_000784.4(CYP27A1):c.646+1G>C	rs79535262
NM_000784.4(CYP27A1):c.646+2T>C	rs1553616253
NM_000784.4(CYP27A1):c.845-2A>G	rs1553616312
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356

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