ClinVar Miner

List of variants in gene CYP27A1 reported by OMIM

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Total variants: 13
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097
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.845-1G>A rs397515353
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356

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