ClinVar Miner

List of variants in gene combination CYP11B2, LOC106799834 reported as uncertain significance for adrenal gland disease

Included ClinVar conditions (124):
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000498.3(CYP11B2):c.*1047C>T rs886062739
NM_000498.3(CYP11B2):c.*204C>G rs773811282
NM_000498.3(CYP11B2):c.*431A>C rs886062742
NM_000498.3(CYP11B2):c.*504C>T rs201487778
NM_000498.3(CYP11B2):c.*743C>T rs886062741
NM_000498.3(CYP11B2):c.*789G>A rs61763990
NM_000498.3(CYP11B2):c.*972C>G rs886062740
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) rs886062744
NM_000498.3(CYP11B2):c.595+15G>T rs886062743
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791
NM_000498.3(CYP11B2):c.800-14T>C rs563246146
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) rs774989997

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