ClinVar Miner

List of variants in gene CYP11A1 reported as uncertain significance for Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

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Total variants: 79
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HGVS dbSNP gnomAD frequency
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.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.269+4A>G rs199573967 0.00009
NM_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu) rs779043334 0.00004
NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu) rs541943607 0.00004
NM_000781.3(CYP11A1):c.625+15A>G rs112977174 0.00004
NM_000781.3(CYP11A1):c.829+3G>C rs369873220 0.00004
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391 0.00003
NM_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser) rs748390637 0.00001
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys) rs573648284 0.00001
NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg) rs772561154 0.00001
NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile) rs111361716 0.00001
NM_000781.3(CYP11A1):c.1026_1030delinsAGCAA (p.Met342_Arg344delinsIleAlaSer)
NM_000781.3(CYP11A1):c.1030C>T (p.Arg344Cys)
NM_000781.3(CYP11A1):c.1031G>A (p.Arg344His)
NM_000781.3(CYP11A1):c.1057C>G (p.Arg353Gly)
NM_000781.3(CYP11A1):c.106G>A (p.Glu36Lys)
NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val) rs2060597413
NM_000781.3(CYP11A1):c.1094G>A (p.Gly365Glu)
NM_000781.3(CYP11A1):c.1106C>T (p.Thr369Met)
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1183C>A (p.Gln395Lys)
NM_000781.3(CYP11A1):c.1195G>T (p.Val399Leu)
NM_000781.3(CYP11A1):c.119T>C (p.Ile40Thr)
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.1216G>C (p.Asp406His)
NM_000781.3(CYP11A1):c.1271G>A (p.Arg424Gln)
NM_000781.3(CYP11A1):c.128G>A (p.Arg43His)
NM_000781.3(CYP11A1):c.1343C>A (p.Thr448Asn)
NM_000781.3(CYP11A1):c.136C>T (p.Arg46Cys)
NM_000781.3(CYP11A1):c.1402G>A (p.Ala468Thr)
NM_000781.3(CYP11A1):c.1414A>T (p.Met472Leu)
NM_000781.3(CYP11A1):c.1420A>G (p.Ile474Val)
NM_000781.3(CYP11A1):c.1465C>T (p.His489Tyr)
NM_000781.3(CYP11A1):c.146A>T (p.Asn49Ile)
NM_000781.3(CYP11A1):c.150G>C (p.Glu50Asp)
NM_000781.3(CYP11A1):c.1523C>T (p.Ser508Phe)
NM_000781.3(CYP11A1):c.1547A>G (p.Gln516Arg)
NM_000781.3(CYP11A1):c.17T>G (p.Leu6Arg)
NM_000781.3(CYP11A1):c.206C>T (p.Thr69Met)
NM_000781.3(CYP11A1):c.227T>C (p.Leu76Pro)
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu) rs2060740796
NM_000781.3(CYP11A1):c.246C>A (p.Phe82Leu)
NM_000781.3(CYP11A1):c.26G>A (p.Arg9His)
NM_000781.3(CYP11A1):c.296T>C (p.Val99Ala)
NM_000781.3(CYP11A1):c.311C>T (p.Pro104Leu)
NM_000781.3(CYP11A1):c.370C>A (p.Pro124Thr)
NM_000781.3(CYP11A1):c.393G>A (p.Gln131=)
NM_000781.3(CYP11A1):c.425+4A>T
NM_000781.3(CYP11A1):c.44G>A (p.Gly15Asp)
NM_000781.3(CYP11A1):c.478G>A (p.Ala160Thr)
NM_000781.3(CYP11A1):c.497A>G (p.Asn166Ser)
NM_000781.3(CYP11A1):c.517G>A (p.Ala173Thr)
NM_000781.3(CYP11A1):c.551G>A (p.Arg184Lys)
NM_000781.3(CYP11A1):c.553C>T (p.Arg185Cys)
NM_000781.3(CYP11A1):c.55T>C (p.Phe19Leu)
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.610C>T (p.Arg204Cys)
NM_000781.3(CYP11A1):c.611G>A (p.Arg204His)
NM_000781.3(CYP11A1):c.62G>T (p.Ser21Ile)
NM_000781.3(CYP11A1):c.653G>T (p.Arg218Leu)
NM_000781.3(CYP11A1):c.65C>T (p.Ala22Val)
NM_000781.3(CYP11A1):c.681C>A (p.Asn227Lys)
NM_000781.3(CYP11A1):c.742C>A (p.Leu248Ile)
NM_000781.3(CYP11A1):c.748C>T (p.Leu250Phe)
NM_000781.3(CYP11A1):c.757G>C (p.Asp253His) rs775022280
NM_000781.3(CYP11A1):c.785C>G (p.Thr262Ser)
NM_000781.3(CYP11A1):c.851_853del (p.Phe284del)
NM_000781.3(CYP11A1):c.869A>C (p.Gln290Pro)
NM_000781.3(CYP11A1):c.880G>A (p.Val294Ile)
NM_000781.3(CYP11A1):c.889G>A (p.Asp297Asn)
NM_000781.3(CYP11A1):c.88C>G (p.Leu30Val)
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732

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