List of variants studied for adrenocortical insufficiency by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A	rs6447	0.01770
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00995
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)	rs143240527	0.00204
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)	rs144029176	0.00193
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)	rs767333157	0.00075
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)	rs193205940	0.00068
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)	rs773601814	0.00001
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)	rs184649564
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923del (p.Leu308fs)	rs267606756
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)	rs2121081165
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)	rs1450008394

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