ClinVar Miner

List of variants in gene HSD11B2 reported as uncertain significance for apparent mineralocorticoid excess

Included ClinVar conditions (1):
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Gene type:
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Total variants: 7
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NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)
NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) rs1567529174
NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) rs1356598056
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) rs1309642469
NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal) rs1567530910

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