List of variants reported as pathogenic for adrenogenital syndrome by OMIM

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
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_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter)	rs398122817	0.00008
NM_000349.3(STAR):c.64+1G>T	rs765968701	0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	rs7769409	0.00007
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)	rs104894085	0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His)	rs28931608	0.00005
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	rs80358218	0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	rs104894090	0.00003
NM_000349.3(STAR):c.653C>T (p.Ala218Val)	rs137852690	0.00003
NM_000198.4(HSD3B2):c.867del (p.Met290fs)	rs767167623	0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	rs121912976	0.00002
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)	rs28931607	0.00002
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	rs80358219	0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	rs80358221	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter)	rs387907235	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	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_004285.4(H6PD):c.1076G>A (p.Gly359Asp)	rs387907167	0.00001
NM_004285.4(H6PD):c.960G>A (p.Val320=)	rs398122816	0.00001
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys)	rs387907168	0.00001
CYP11B1, CYP11B1/CYP11B2 CHIMERA
CYP21A2, 30-KB DEL
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His)	rs104893913
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn)	rs104893909
NM_000176.3(NR3C1):c.1891_1892+2del	rs587776832
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val)	rs104893908
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser)	rs104893914
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu)	rs121909727
NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met)	rs104893910
NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro)	rs104893912
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)	rs121964897
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)	rs770815049
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	rs80358220
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]
NM_000349.3(STAR):c.135del (p.Ser46fs)	rs193922393
NM_000349.3(STAR):c.178+2dup	rs1563268785
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	rs1563268652
NM_000349.3(STAR):c.466-11T>A	rs1053284504
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086
NM_000349.3(STAR):c.545G>T (p.Arg182Leu)	rs104894086
NM_000349.3(STAR):c.650G>C (p.Arg217Thr)	rs137852689
NM_000349.3(STAR):c.749G>A (p.Trp250Ter)	rs104894087
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp)	rs104894071
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	rs758714890
NM_000497.4(CYP11B1):c.1398+4A>G	rs1586557065
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)	rs104894066
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)	rs104894067
NM_000497.4(CYP11B1):c.595+16G>T	rs1365173817
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	rs104894061
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)	rs72552757
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)	rs397509367
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.293-2A>G	rs1582302625
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	rs387906510
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln)	rs267606757
NM_000500.9(CYP21A2):c.511dup (p.Ser171fs)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.85dup (p.His29fs)	rs1582299448
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)	rs201552310
NM_000500.9(CYP21A2):c.939+1G>C	rs1474566961
NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T]
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T]
NM_001395413.1(POR):c.1813G>T (p.Val605Phe)	rs72552772
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)	rs72552771
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer)	rs606231222
NM_004285.4(H6PD):c.325del (p.Arg109fs)	rs398122818
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn)	rs756817759

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