List of variants studied for Deficiency of steroid 11-beta-monooxygenase by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
CYP11B1, CYP11B1/CYP11B2 CHIMERA
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp)	rs104894071
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	rs758714890
NM_000497.4(CYP11B1):c.1398+4A>G	rs1586557065
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)	rs104894066
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)	rs104894067
NM_000497.4(CYP11B1):c.595+16G>T	rs1365173817
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	rs104894061
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484

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