ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported by Athena Diagnostics Inc

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Total variants: 48
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HGVS dbSNP gnomAD frequency
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.188A>T (p.His63Leu) rs9378252 0.00995
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527 0.00204
NM_000500.9(CYP21A2):c.227G>A (p.Arg76Lys) rs368330593 0.00122
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
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.342C>T (p.Ser114=) rs193922546 0.00016
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000500.9(CYP21A2):c.1279C>T (p.Arg427Cys) rs1370167869 0.00005
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile) rs373579128 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000500.9(CYP21A2):c.1222+8G>A rs752693177 0.00003
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.89T>A (p.Leu30His) rs1303387085 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) rs746303150 0.00001
NM_000500.9(CYP21A2):c.1100G>A (p.Arg367His)
NM_000500.9(CYP21A2):c.1132G>A (p.Asp378Asn)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1208A>G (p.His403Arg)
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.1343_1360del (p.Gln448_Leu453del) rs1562764272
NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln) rs200005406
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.292+10G>A
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.318G>A (p.Pro106=) rs6455
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.332del (p.Gly111fs) rs1582302950
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
NM_000500.9(CYP21A2):c.397C>T (p.Arg133Cys)
NM_000500.9(CYP21A2):c.448C>T (p.Arg150Cys)
NM_000500.9(CYP21A2):c.489G>A (p.Glu163=) rs1776090800
NM_000500.9(CYP21A2):c.493T>G (p.Phe165Val)
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.60G>A (p.Trp20Ter) rs746097144
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.94C>T (p.Pro32Ser)

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