List of variants reported as pathogenic for Deficiency of steroid 11-beta-monooxygenase by Baylor Genetics

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)	rs146124466	0.00032
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)	rs775479837	0.00003
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	rs779103938	0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)	rs140336749	0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)	rs387907573	0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)	rs387907572	0.00001
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)
NM_000497.4(CYP11B1):c.1201-1G>A	rs1437397442
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)	rs1221010438
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)	rs28934586
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	rs2130266157
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)	rs1554653675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)	rs764418169
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)	rs763195324
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)	rs866430018
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)	rs2130274854
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	rs104894061
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)	rs1326688256

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