ClinVar Miner

List of variants reported as likely pathogenic for corticosterone methyloxidase type 1 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072 0.00011
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) rs765921219 0.00003
NM_000498.3(CYP11B2):c.1200+1G>A rs761385416 0.00001
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter) rs1817612031 0.00001
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro) rs1351295710

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