ClinVar Miner

List of variants reported as benign for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.465+20A>G rs2720050 0.97715
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_000500.9(CYP21A2):c.118C>T (p.Leu40=) rs6468 0.82940
NM_000500.9(CYP21A2):c.292+9C>T rs6462 0.71669
NM_000349.3(STAR):c.*1524A>G rs3990403 0.70953
NM_000500.9(CYP21A2):c.138C>A (p.Pro46=) rs6464 0.70511
NM_000497.4(CYP11B1):c.*471A>C rs12543598 0.67053
NM_000497.4(CYP11B1):c.*694T>C rs5303 0.65382
NM_000497.4(CYP11B1):c.*1852T>G rs4736312 0.61613
NM_000497.4(CYP11B1):c.*1566G>T rs1134096 0.60736
NM_000497.4(CYP11B1):c.*318A>G rs5299 0.60710
NM_000497.4(CYP11B1):c.*1499C>T rs1134095 0.60702
NM_000497.4(CYP11B1):c.*738G>A rs5304 0.60698
NM_000497.4(CYP11B1):c.*1042A>G rs7003319 0.60695
NM_000497.4(CYP11B1):c.800-45C>T rs7822986 0.59689
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_000497.4(CYP11B1):c.*516A>G rs5301 0.49013
NM_000176.3(NR3C1):c.*3298G>T rs6191 0.48065
NM_000941.2(POR):c.-47A>C rs3823884 0.44962
NM_004285.4(H6PD):c.2019T>C (p.Tyr673=) rs9434742 0.42000
NM_004285.4(H6PD):c.2118A>G (p.Ser706=) rs9434743 0.41917
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163 0.40112
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162 0.40089
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000176.3(NR3C1):c.1469-16G>T rs6188 0.29351
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_000500.9(CYP21A2):c.447+38C>T rs6466 0.27535
NM_001395413.1(POR):c.1239+20G>A rs2286823 0.27178
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_004285.4(H6PD):c.741T>C (p.Ala247=) rs11121350 0.25452
NM_000102.4(CYP17A1):c.436+105A>C rs743575 0.24877
NM_004285.4(H6PD):c.745+88T>A rs12032814 0.23253
NM_000198.4(HSD3B2):c.*276C>T rs1819698 0.22355
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_004285.4(H6PD):c.636G>A (p.Ala212=) rs7524046 0.20778
NM_005525.4(HSD11B1):c.332-29T>G rs12086634 0.19650
NM_000198.4(HSD3B2):c.*321C>G rs1361530 0.19080
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196 0.15759
NM_000497.4(CYP11B1):c.596-41C>T rs113759408 0.14096
NM_000102.4(CYP17A1):c.666+35T>C rs1004467 0.13602
NM_000497.4(CYP11B1):c.*132T>C rs5297 0.13529
NM_000497.4(CYP11B1):c.*1288A>G rs61752809 0.13519
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000497.4(CYP11B1):c.*1417G>A rs61752812 0.11851
NM_000176.3(NR3C1):c.*3833A>G rs6198 0.11482
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_000497.4(CYP11B1):c.*923G>C rs61752805 0.06064
NM_000497.4(CYP11B1):c.800-14C>T rs4535 0.05537
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) rs4541 0.04552
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_000497.4(CYP11B1):c.239+20T>A rs6388 0.03859
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751 0.03733
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) rs6403 0.03563
NM_000198.4(HSD3B2):c.*202A>G rs9282704 0.02229
NM_000198.4(HSD3B2):c.*96C>G rs9282703 0.02228
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546 0.01994
NM_000500.9(CYP21A2):c.293-80G>A rs79249676 0.01774
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000349.3(STAR):c.*987A>G rs28361934 0.01708
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189 0.01685
NM_000176.3(NR3C1):c.*2188A>G rs6193 0.01524
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000497.4(CYP11B1):c.239+13C>A rs6402 0.00753
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_000500.9(CYP21A2):c.1223-21C>T rs755724055 0.00535
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954 0.00385
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194 0.00372
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_001395413.1(POR):c.1661-17C>T rs10265262 0.00362
NM_000500.9(CYP21A2):c.447+39G>A rs569670804 0.00249
NM_001395413.1(POR):c.1889+13G>T rs72557956 0.00178
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00087
NM_001395413.1(POR):c.675G>A (p.Pro225=) rs72555510 0.00062
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_001395413.1(POR):c.889G>A (p.Glu297Lys) rs11540674 0.00044
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001395413.1(POR):c.735C>T (p.Tyr245=) rs201786397 0.00021
NM_000500.9(CYP21A2):c.651+30G>A rs777741541 0.00019
NM_001395413.1(POR):c.1509C>T (p.Asn503=) rs782397055 0.00010
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000500.9(CYP21A2):c.448-50G>A rs780875791 0.00006
NM_001395413.1(POR):c.991G>A (p.Val331Ile) rs562241770 0.00006
NM_000500.9(CYP21A2):c.652-5C>T rs758449746 0.00004
NM_001395413.1(POR):c.861C>T (p.Thr287=) rs782249427 0.00004
NM_000500.9(CYP21A2):c.293-88G>A rs1282239643 0.00003
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=) rs1433029679 0.00001
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000349.3(STAR):c.*967del rs11326306
NM_000497.4(CYP11B1):c.*1020C>T rs5017238
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.595+12G>A rs6387
NM_000497.4(CYP11B1):c.799+17G>A rs61751156
NM_000500.9(CYP21A2):c.*18C>T rs1582314321
NM_000500.9(CYP21A2):c.*2G>C rs1182749183
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=) rs1188690556
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.203-18G>C rs1582300565
NM_000500.9(CYP21A2):c.292+109C>G rs1582301551
NM_000500.9(CYP21A2):c.293-115C>G rs1582301787
NM_000500.9(CYP21A2):c.293-130C>T rs1582301718
NM_000500.9(CYP21A2):c.293-13C>A rs6467
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.405C>T (p.Ser135=) rs1582303392
NM_000500.9(CYP21A2):c.448-3C>T rs1582304092
NM_000500.9(CYP21A2):c.550-19C>G rs1582305066
NM_000500.9(CYP21A2):c.651+35A>G rs12525076
NM_001395413.1(POR):c.*306G>A rs17685
NM_001395413.1(POR):c.1044G>A (p.Leu348=) rs782369494
NM_001395413.1(POR):c.1182G>A (p.Ser394=) rs72557928
NM_001395413.1(POR):c.1239+10_1239+33del rs782146699
NM_001395413.1(POR):c.1239+10del rs797045899
NM_001395413.1(POR):c.1660+10dup
NM_001395413.1(POR):c.1889+14dup
NM_001395413.1(POR):c.507+15_507+16del rs368249506
NM_004285.3(H6PD):c.-7_1delCCCAGGCA
NM_005525.4(HSD11B1):c.331+53dup rs45487298

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