List of variants reported as pathogenic for cortisone reductase deficiency by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter)	rs398122817	0.00008
NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp)	rs387907167	0.00001
NM_004285.4(H6PD):c.960G>A (p.Val320=)	rs398122816	0.00001
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys)	rs387907168	0.00001
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer)	rs606231222
NM_004285.4(H6PD):c.325del (p.Arg109fs)	rs398122818
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn)	rs756817759

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