List of variants reported as pathogenic for Cholestanol storage disease by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_000784.4(CYP27A1):c.845-1G>A	rs397515353	0.00004
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	rs121908097	0.00003
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)	rs72551313
NM_000784.4(CYP27A1):c.844+1G>A	rs397515354
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356

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