ClinVar Miner

List of variants in gene CYP27A1 reported as uncertain significance by Natera, Inc.

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
NM_000784.4(CYP27A1):c.646+4C>T rs191313794
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566

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