List of variants reported as pathogenic for adrenocortical insufficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	rs121912976	0.00002
NM_015665.6(AAAS):c.464G>A (p.Arg155His)	rs758440592	0.00001
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	rs387906510
NM_000500.9(CYP21A2):c.59G>A (p.Trp20Ter)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	rs267606756

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