List of variants reported as pathogenic for primary adrenal insufficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	rs7769409	0.00007
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	rs757033996	0.00005
NM_001379228.1(MRAP):c.106+1G>C	rs566223651	0.00003
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)	rs148200568	0.00001
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)	rs755186597	0.00001
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)	rs104894149
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)	rs1324519932
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	rs387906510
NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs)	rs1776193326
NM_000529.2(MC2R):c.459dup (p.Ile154fs)	rs1555619430
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter)	rs766542823
NM_182977.3(NNT):c.1025T>C (p.Val342Ala)
NM_182977.3(NNT):c.98dup (p.Leu33fs)	rs1579966821

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