ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as pathogenic for congenital adrenal hyperplasia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
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_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
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.1273G>A (p.Gly425Ser) rs72552758 0.00004
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.710T>A (p.Ile237Asn) rs1554299737 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.1019G>A (p.Arg340His) rs72552754
NM_000500.9(CYP21A2):c.1118+2T>C rs1776240589
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1208_1209del (p.His403fs)
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.1291G>A (p.Gly431Ser) rs1582312633
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)
NM_000500.9(CYP21A2):c.292+1G>A rs779144910
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.433del (p.Gln145fs) rs2151872060
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) rs1582304457
NM_000500.9(CYP21A2):c.511dup (p.Ser171fs)
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) rs1582304536
NM_000500.9(CYP21A2):c.59G>A (p.Trp20Ter)
NM_000500.9(CYP21A2):c.651+2T>G rs2151873259
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.833dup (p.Glu279fs) rs2151874375
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.874G>C (p.Gly292Arg) rs201552310
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.[1019G>A;1360C>T]
NM_000500.9(CYP21A2):c.[710T>A;713T>A]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.