ClinVar Miner

List of variants reported as benign for Corticosterone methyloxidase type 2 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.*239T>C rs9297975 0.99854
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536 0.94662
NM_000498.3(CYP11B2):c.*1178T>C rs3802228 0.63301
NM_000498.3(CYP11B2):c.*532G>T rs3802230 0.63100
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538 0.54644
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539 0.38300
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546 0.38199
NM_000498.3(CYP11B2):c.*735G>A rs28491316 0.34747
NM_000498.3(CYP11B2):c.*81G>A rs3097 0.20109
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543 0.12001
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313 0.11194
NM_000498.3(CYP11B2):c.*744G>A rs28390200 0.10952
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_000498.3(CYP11B2):c.*537C>T rs72499120 0.05319
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545 0.04485
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295 0.01636
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr) rs6438 0.01088
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598 0.00766
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441 0.00391
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) rs4544
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) rs4544

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