List of variants reported as likely pathogenic for adrenocortical insufficiency by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	rs139081695	0.00004
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)	rs905880501
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter)	rs756663759
NM_000349.3(STAR):c.650+1G>A	rs1563267767
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)	rs2125629897
NM_015665.6(AAAS):c.762del (p.Ser255fs)	rs746057093
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)	rs2121089586
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)	rs774817639

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