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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His)	rs13306425	0.00019
NM_000196.4(HSD11B2):c.935G>A (p.Arg312His)	rs766239000	0.00003
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn)	rs147758873	0.00003
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	rs121917780	0.00001
NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)	rs28934593
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.512A>G (p.Asn171Ser)
NM_000196.4(HSD11B2):c.536T>C (p.Leu179Pro)
NM_000196.4(HSD11B2):c.586G>A (p.Ala196Thr)
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val)	rs1309642469
NM_000196.4(HSD11B2):c.745G>A (p.Glu249Lys)
NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal)	rs1567530910

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