ClinVar Miner

List of variants in gene CYP11A1 reported as pathogenic for adrenal gland disease

Included ClinVar conditions (131):
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Gene type:
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Total variants: 10
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CYP11A1, 1-BP DEL, 835A
CYP11A1, 1-BP INS, IVS3, T
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812
NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) rs121912814
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp) rs121912813
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601

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