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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 118

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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	0.00436
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.438C>T (p.Ala146=)	rs141920628	0.00189
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala)	rs143879080	0.00136
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.1290C>T (p.Phe430=)	rs147405344	0.00031
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.835del (p.Ile279fs)	rs757299093	0.00007
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=)	rs530494910	0.00006
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.1076C>T (p.Ala359Val)	rs121912812	0.00003
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu)	rs764270391	0.00003
NM_000781.3(CYP11A1):c.806C>T (p.Ala269Val)	rs1021942880	0.00002
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)	rs72547508	0.00001
NM_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser)	rs748390637	0.00001
NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)	rs775102947	0.00001
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys)	rs573648284	0.00001
NM_000781.3(CYP11A1):c.358del (p.Arg120fs)	rs1287871034	0.00001
NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg)	rs772561154	0.00001
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)	rs755186597	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.1094del (p.Gly365fs)
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.1199del (p.Asn400fs)
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.1244T>A (p.Val415Glu)	rs121912814
NM_000781.3(CYP11A1):c.1270C>T (p.Arg424Ter)
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.1378C>T (p.Arg460Trp)
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.202dup (p.Glu68fs)
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.358C>T (p.Arg120Ter)	rs776056840
NM_000781.3(CYP11A1):c.370C>A (p.Pro124Thr)
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter)	rs2060639501
NM_000781.3(CYP11A1):c.393G>A (p.Gln131=)
NM_000781.3(CYP11A1):c.412G>A (p.Gly138Arg)
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp)	rs121912813
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.49C>T (p.Gln17Ter)
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)	rs1567053134
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.566C>T (p.Ala189Val)	rs121912811
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.625+2dup	rs2060625814
NM_000781.3(CYP11A1):c.62G>T (p.Ser21Ile)
NM_000781.3(CYP11A1):c.644T>C (p.Phe215Ser)
NM_000781.3(CYP11A1):c.653G>T (p.Arg218Leu)
NM_000781.3(CYP11A1):c.65C>T (p.Ala22Val)
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro)	rs387906601
NM_000781.3(CYP11A1):c.681C>A (p.Asn227Lys)
NM_000781.3(CYP11A1):c.740_744dup (p.Asn249fs)
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.804del (p.Ala269fs)
NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp)	rs2060619548
NM_000781.3(CYP11A1):c.830-1G>C
NM_000781.3(CYP11A1):c.83_116del (p.Gly28fs)
NM_000781.3(CYP11A1):c.851_853del (p.Phe284del)
NM_000781.3(CYP11A1):c.864del (p.Arg289fs)
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
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys)	rs886041121

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