ClinVar Miner

List of variants reported as likely benign for corticosterone methyloxidase type 2 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
NM_000498.3(CYP11B2):c.-14G>C rs6440 0.00397
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=) rs75506816 0.00220
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=) rs139346202 0.00200
NM_000498.3(CYP11B2):c.595+14G>A rs5307 0.00113
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297 0.00097
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=) rs369108075 0.00065
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462 0.00029
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) rs371126595 0.00026
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047 0.00025
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154 0.00018
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) rs200831024 0.00007
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=) rs771614097 0.00005
NM_000498.3(CYP11B2):c.72G>A (p.Leu24=) rs768219160 0.00004
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=) rs141645920 0.00004
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=) rs201423805 0.00003
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392 0.00002
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574 0.00002
NM_000498.3(CYP11B2):c.996G>C (p.Arg332=) rs781061958 0.00002
NM_000498.3(CYP11B2):c.1201-8G>A rs767809371 0.00001
NM_000498.3(CYP11B2):c.237C>T (p.Phe79=) rs1415124302 0.00001
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=) rs763373087 0.00001
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545 0.00001
NM_000498.3(CYP11B2):c.978G>A (p.Thr326=) rs374863640 0.00001
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=) rs780878883
NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro) rs2130324931
NM_000498.3(CYP11B2):c.144G>A (p.Arg48=) rs1817673208
NM_000498.3(CYP11B2):c.799+10G>C rs1254465968
NM_000498.3(CYP11B2):c.93C>T (p.Ala31=) rs1817675047

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