ClinVar Miner

List of variants studied for Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873 0.01114
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009 0.00415
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=) rs138177167 0.00268
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000781.3(CYP11A1):c.830-14C>G rs190239248 0.00251
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) rs143879080 0.00132
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674 0.00083
NM_000781.3(CYP11A1):c.915C>G (p.Leu305=) rs148430549 0.00043
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205 0.00031
NM_000781.3(CYP11A1):c.261G>A (p.Pro87=) rs141375785 0.00026
NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser) rs190764523 0.00017
NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) rs57982762 0.00009
NM_000781.3(CYP11A1):c.1158-5C>T rs377242922 0.00009
NM_000781.3(CYP11A1):c.269+4A>G rs199573967 0.00009
NM_000781.3(CYP11A1):c.-59A>G rs567971184 0.00007
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397 0.00007
NM_000781.3(CYP11A1):c.625+15A>G rs112977174 0.00007
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910 0.00006
NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu) rs541943607 0.00004
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391 0.00003
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys) rs573648284 0.00001
NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile) rs111361716 0.00001
NM_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val) rs2060597413
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu) rs2060740796
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.757G>C (p.Asp253His) rs775022280

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