ClinVar Miner

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

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000781.3(CYP11A1):c.835del (p.Ile279fs) rs757299093 0.00007
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812 0.00003
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508 0.00001
NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp) rs775102947 0.00001
NM_000781.3(CYP11A1):c.358del (p.Arg120fs) rs1287871034 0.00001
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter) rs755186597 0.00001
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.625+2dup rs2060625814
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601
NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp) rs2060619548

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