ClinVar Miner

List of variants in gene CYP27A1 reported as uncertain significance by Invitae

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Total variants: 26
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203
NM_000784.4(CYP27A1):c.1184+3A>G
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737

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