ClinVar Miner

List of variants in gene CYP11A1 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000781.3(CYP11A1):c.1058G>A (p.Arg353Gln) rs202246326 0.00008
NM_000781.3(CYP11A1):c.478G>A (p.Ala160Thr) rs149170405 0.00005
NM_000781.3(CYP11A1):c.202G>A (p.Glu68Lys) rs780119260 0.00003
NM_000781.3(CYP11A1):c.737C>G (p.Pro246Arg) rs1315536282 0.00003
NM_000781.3(CYP11A1):c.85C>T (p.Arg29Cys) rs748686615 0.00002
NM_000781.3(CYP11A1):c.149A>G (p.Glu50Gly) rs776157151 0.00001
NM_000781.3(CYP11A1):c.1519A>G (p.Ile507Val) rs1172517907 0.00001
NM_000781.3(CYP11A1):c.158C>T (p.Ser53Phe) rs377707559 0.00001
NM_000781.3(CYP11A1):c.26G>A (p.Arg9His) rs769808230 0.00001
NM_000781.3(CYP11A1):c.450C>G (p.Asp150Glu) rs768847979 0.00001
NM_000781.3(CYP11A1):c.584C>T (p.Ser195Leu) rs576925843 0.00001
NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg) rs772561154 0.00001
NM_000781.3(CYP11A1):c.685G>A (p.Glu229Lys) rs779166958 0.00001
NM_000781.3(CYP11A1):c.1026G>A (p.Met342Ile)
NM_000781.3(CYP11A1):c.1061C>T (p.Ala354Val) rs2060597553
NM_000781.3(CYP11A1):c.1244T>G (p.Val415Gly) rs121912814
NM_000781.3(CYP11A1):c.1273G>A (p.Glu425Lys)
NM_000781.3(CYP11A1):c.1327A>C (p.Lys443Gln)
NM_000781.3(CYP11A1):c.1336A>G (p.Asn446Asp) rs2060590858
NM_000781.3(CYP11A1):c.150G>C (p.Glu50Asp)
NM_000781.3(CYP11A1):c.1529C>T (p.Thr510Ile)
NM_000781.3(CYP11A1):c.173G>A (p.Gly58Asp)
NM_000781.3(CYP11A1):c.209G>A (p.Gly70Asp)
NM_000781.3(CYP11A1):c.452G>A (p.Arg151Gln) rs763187434
NM_000781.3(CYP11A1):c.610C>T (p.Arg204Cys) rs746351603
NM_000781.3(CYP11A1):c.611G>A (p.Arg204His)
NM_000781.3(CYP11A1):c.880G>A (p.Val294Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.