ClinVar Miner

List of variants in gene combination CYP11B2, LOC106799834 reported as pathogenic for corticosterone methyloxidase type 1 deficiency

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) rs121912977 0.00002
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=) rs760329766 0.00002
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) rs72554627 0.00001
NM_000498.3(CYP11B2):c.240-2A>G rs1442525444 0.00001
NM_000498.3(CYP11B2):c.104_109delinsG (p.Val35fs) rs2130336602
NM_000498.3(CYP11B2):c.423_428dup (p.Leu144_Asn145insArgLeu) rs1817623118
NM_000498.3(CYP11B2):c.[594A>C;1157T>C]

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