List of variants reported as pathogenic for Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency by OMIM

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000781.3(CYP11A1):c.835del (p.Ile279fs)	rs757299093	0.00007
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)	rs121912812	0.00003
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)	rs72547508	0.00001
NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)	rs121912814
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp)	rs121912813
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val)	rs121912811
NM_000781.3(CYP11A1):c.625+2dup	rs2060625814
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro)	rs387906601
NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp)	rs2060619548

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