List of variants reported as likely pathogenic for adrenogenital syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.815G>A (p.Arg272His)	rs540090187	0.00010
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	rs193922538	0.00008
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)	rs770199817	0.00007
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	rs762479018	0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	rs139081695	0.00004
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)	rs61752786	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)	rs879802265	0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro)	rs762245736	0.00003
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	rs375892072	0.00003
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)	rs61754262	0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	rs551783234	0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	rs779103938	0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)	rs72557954	0.00001
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)	rs1590204913
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)	rs766331452
NM_000349.3(STAR):c.178+1G>C	rs1554503011
NM_000349.3(STAR):c.811del (p.Leu271fs)	rs1350908961
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G	rs1586557065
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	rs1327055239
NM_001395413.1(POR):c.1320dup (p.Ile441fs)	rs786205875

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