ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 43
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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.308G>A (p.Arg103Lys) rs6474 0.25928
NM_000500.9(CYP21A2):c.747C>G (p.Leu249=) rs6477 0.16413
NM_000500.9(CYP21A2):c.738+13C>T rs6459 0.14595
NM_000500.9(CYP21A2):c.738+12A>G rs6458 0.14587
NM_000500.9(CYP21A2):c.550-15C>A rs1040312 0.04345
NM_000500.9(CYP21A2):c.550-8T>C rs1040311 0.03884
NM_000500.9(CYP21A2):c.939+11G>C rs6442 0.00708
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.9(CYP21A2):c.293-4G>A rs147821751 0.00345
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
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.850A>G (p.Met284Val) rs770199817 0.00007
NM_000500.9(CYP21A2):c.705T>C (p.Asp235=) rs10947229 0.00006
NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp) rs72552755 0.00005
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000500.9(CYP21A2):c.822T>C (p.Ser274=) rs11970671 0.00004
NM_000500.9(CYP21A2):c.1473G>A (p.Pro491=) rs6446 0.00003
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000500.9(CYP21A2):c.939+10G>A rs774336886 0.00002
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) rs772900496 0.00001
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) rs151344504 0.00001
NM_000500.9(CYP21A2):c.1007C>T (p.Pro336Leu)
NM_000500.9(CYP21A2):c.1160C>T (p.Pro387Leu)
NM_000500.9(CYP21A2):c.1192G>A (p.Val398Ile)
NM_000500.9(CYP21A2):c.1226G>T (p.Arg409Leu)
NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser)
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.1481G>A (p.Ser494Asn) rs6473
NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000500.9(CYP21A2):c.300G>A (p.Leu100=) rs886038303
NM_000500.9(CYP21A2):c.318G>A (p.Pro106=) rs6455
NM_000500.9(CYP21A2):c.318G>C (p.Pro106=) rs6455
NM_000500.9(CYP21A2):c.448C>A (p.Arg150Ser)
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.652-4G>A rs373648076
NM_000500.9(CYP21A2):c.749T>C (p.Val250Ala)
NM_000500.9(CYP21A2):c.77G>A (p.Arg26Gln)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471

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