ClinVar Miner

List of variants in gene HSD11B1 studied for cortisone reductase deficiency

Included ClinVar conditions (2):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005525.4(HSD11B1):c.332-29T>G rs12086634 0.19650
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys) rs387907168 0.00001
NM_005525.4(HSD11B1):c.331+53dup rs45487298
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn) rs756817759
NM_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]

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