List of variants reported as pathogenic for primary adrenal insufficiency by Revvity Omics, Revvity

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	rs121918548	0.00007
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	rs104894090	0.00003
NM_015665.6(AAAS):c.1331+1G>A	rs150511103	0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)	rs367833709	0.00002
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)	rs121918547	0.00001
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	rs80358220
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	rs1563268652
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)	rs1944347921

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