ClinVar Miner

List of variants reported as likely pathogenic for Cholestanol storage disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00003
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=) rs374941032 0.00003
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000784.4(CYP27A1):c.1004C>T (p.Ala335Val)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1339del (p.His447fs)
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1_10del (p.Met1fs)
NM_000784.4(CYP27A1):c.203del (p.Phe68fs)
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly) rs201114717
NM_000784.4(CYP27A1):c.38del (p.Leu13fs) rs1943397479
NM_000784.4(CYP27A1):c.41_63del (p.Arg14fs)
NM_000784.4(CYP27A1):c.554_555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.646+1G>A rs79535262
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) rs1559392634

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