ClinVar Miner

List of variants in gene combination CYP11B2, LOC106799834 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536 0.94662
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538 0.54644
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539 0.38300
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546 0.38199
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004

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