ClinVar Miner

List of variants in gene CYP11B2, LOC106799834 studied for adrenal gland disease

Included ClinVar conditions (124):
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Total variants: 66
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HGVS dbSNP
NM_000498.3(CYP11B2):c.*1047C>T rs886062739
NM_000498.3(CYP11B2):c.*1178T>C rs3802228
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.*204C>G rs773811282
NM_000498.3(CYP11B2):c.*239T>C rs9297975
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.*299G>A rs528171695
NM_000498.3(CYP11B2):c.*431A>C rs886062742
NM_000498.3(CYP11B2):c.*504C>T rs201487778
NM_000498.3(CYP11B2):c.*532G>T rs3802230
NM_000498.3(CYP11B2):c.*537C>T rs72499120
NM_000498.3(CYP11B2):c.*566C>T rs375938097
NM_000498.3(CYP11B2):c.*579T>C rs559136479
NM_000498.3(CYP11B2):c.*735G>A rs28491316
NM_000498.3(CYP11B2):c.*743C>T rs886062741
NM_000498.3(CYP11B2):c.*744G>A rs28390200
NM_000498.3(CYP11B2):c.*746G>A rs570202161
NM_000498.3(CYP11B2):c.*789G>A rs61763990
NM_000498.3(CYP11B2):c.*81G>A rs3097
NM_000498.3(CYP11B2):c.*972C>G rs886062740
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) rs4544
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) rs4544
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) rs562670189
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) rs72554627
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) rs72554626
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) rs372556807
NM_000498.3(CYP11B2):c.395+10G>A rs193166276
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) rs577489337
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) rs886062744
NM_000498.3(CYP11B2):c.595+14G>A rs5307
NM_000498.3(CYP11B2):c.595+15G>T rs886062743
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) rs752962897
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) rs121912977
NM_000498.3(CYP11B2):c.800-14T>C rs563246146
NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) rs121912979
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) rs774989997
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462
NM_000498.3(CYP11B2):c.[541C>T;1157T>C]
NM_000498.3(CYP11B2):c.[594A>C;1157T>C]

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