ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as pathogenic for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Total variants: 40
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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_000500.9(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.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.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.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.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.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]

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