ClinVar Miner

List of variants in gene CYP21A2, LOC106780800 studied for primary adrenal insufficiency

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.118C>T (p.Leu40=) rs6468 0.82940
NM_000500.9(CYP21A2):c.292+9C>T rs6462 0.71669
NM_000500.9(CYP21A2):c.138C>A (p.Pro46=) rs6464 0.70511
NM_000500.9(CYP21A2):c.447+38C>T rs6466 0.27535
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_000500.9(CYP21A2):c.293-80G>A rs79249676 0.01774
NM_000500.9(CYP21A2):c.203-46C>T rs6452 0.01305
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000500.9(CYP21A2):c.447+39G>A rs569670804 0.00249
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527 0.00204
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176 0.00193
NM_000500.9(CYP21A2):c.292+56T>G rs543633765 0.00139
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_000500.9(CYP21A2):c.292+37T>A rs184177366 0.00058
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser) rs764636694 0.00023
NM_000500.9(CYP21A2):c.651+30G>A rs777741541 0.00019
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) rs758658540 0.00016
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00016
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met) rs151344505 0.00010
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000500.9(CYP21A2):c.448-50G>A rs780875791 0.00006
NM_000500.9(CYP21A2):c.939+5G>A rs557564791 0.00005
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile) rs373579128 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000500.9(CYP21A2):c.652-5C>T rs758449746 0.00004
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000500.9(CYP21A2):c.293-88G>A rs1282239643 0.00003
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531 0.00003
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) rs772900496 0.00001
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln) rs574370139 0.00001
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503 0.00001
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) rs151344504 0.00001
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly) rs1436972952 0.00001
NM_000500.9(CYP21A2):c.169G>A (p.Gly57Arg) rs1413433421 0.00001
NM_000500.9(CYP21A2):c.293-131_293-129dup rs1219292422 0.00001
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys) rs371412889 0.00001
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=) rs1433029679 0.00001
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly) rs1229809778 0.00001
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) rs746303150 0.00001
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.9(CYP21A2):c.*2G>C rs1182749183
NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His) rs72552754
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr) rs2151875295
NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro) rs760216630
NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=) rs1776234662
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) rs574370139
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro) rs2151875445
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro) rs376421504
NM_000500.9(CYP21A2):c.1118+1G>A rs778895502
NM_000500.9(CYP21A2):c.1118+2T>C rs1776240589
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1131C>G (p.Tyr377Ter)
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr) rs528524868
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) rs1429901248
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His) rs1582311004
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly) rs1451687726
NM_000500.9(CYP21A2):c.1208_1209del (p.His403fs)
NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser) rs2151876037
NM_000500.9(CYP21A2):c.1223-3C>G rs6460
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) rs1367112998
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val) rs2151876633
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) rs1582312633
NM_000500.9(CYP21A2):c.1294G>A (p.Glu432Lys)
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg) rs751456004
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=) rs1188690556
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu) rs1257180779
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg) rs1240539721
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr) rs776989258
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs) rs779791105
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.1478A>G (p.Gln493Arg)
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs) rs886038207
NM_000500.9(CYP21A2):c.203-18G>C rs1582300565
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs) rs1582298980
NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)
NM_000500.9(CYP21A2):c.254del (p.Lys85fs) rs1582300748
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser) rs1185350916
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) rs1554304513
NM_000500.9(CYP21A2):c.292+109C>G rs1582301551
NM_000500.9(CYP21A2):c.292+1G>A rs779144910
NM_000500.9(CYP21A2):c.292+3A>G rs752771213
NM_000500.9(CYP21A2):c.292+45_292+46insTGT rs1422458709
NM_000500.9(CYP21A2):c.293-100_293-99insG rs1582301904
NM_000500.9(CYP21A2):c.293-115C>G rs1582301787
NM_000500.9(CYP21A2):c.293-130C>T rs1582301718
NM_000500.9(CYP21A2):c.293-136C>T rs1582301685
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.293-13C>T rs6467
NM_000500.9(CYP21A2):c.293-2A>G rs1582302625
NM_000500.9(CYP21A2):c.293-89A>G rs1582302040
NM_000500.9(CYP21A2):c.293-91G>A rs1051507539
NM_000500.9(CYP21A2):c.293-94T>A rs1582301962
NM_000500.9(CYP21A2):c.293-95G>C rs1382005578
NM_000500.9(CYP21A2):c.293-96G>T rs1582301922
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=) rs1258749689
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=) rs1582303392
NM_000500.9(CYP21A2):c.405del (p.Met136fs) rs2151871966
NM_000500.9(CYP21A2):c.433del (p.Gln145fs) rs2151872060
NM_000500.9(CYP21A2):c.448-3C>T rs1582304092
NM_000500.9(CYP21A2):c.449G>C (p.Arg150Pro)
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val) rs1582304416
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg) rs1582304441
NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) rs1582304457
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu) rs1185695713
NM_000500.9(CYP21A2):c.511dup (p.Ser171fs)
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) rs1582304536
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu) rs777946906
NM_000500.9(CYP21A2):c.550-19C>G rs1582305066
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) rs1582305275
NM_000500.9(CYP21A2):c.59G>A (p.Trp20Ter)
NM_000500.9(CYP21A2):c.60G>C (p.Trp20Cys)
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter) rs1776123817
NM_000500.9(CYP21A2):c.651+2T>G rs2151873259
NM_000500.9(CYP21A2):c.651+35A>G rs12525076
NM_000500.9(CYP21A2):c.652-1G>A rs1397184823
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)
NM_000500.9(CYP21A2):c.710_719del (p.Ile237fs)
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val) rs1582306855
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=) rs1441177352
NM_000500.9(CYP21A2):c.739-74G>A rs1582307366
NM_000500.9(CYP21A2):c.740del (p.Glu247fs) rs750499484
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) rs182942340
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) rs1582307951
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) rs1582307951
NM_000500.9(CYP21A2):c.803C>G (p.Pro268Arg)
NM_000500.9(CYP21A2):c.833dup (p.Glu279fs) rs2151874375
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys) rs2151874388
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser) rs570785206
NM_000500.9(CYP21A2):c.85dup (p.His29fs) rs1582299448
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.9(CYP21A2):c.874G>C (p.Gly292Arg) rs201552310
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs) rs1776193326
NM_000500.9(CYP21A2):c.923del (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.939+1G>C rs1474566961
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) rs1776217797
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del) rs1582309414
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T]
NM_000500.9(CYP21A2):c.[710T>A;713T>A]

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