List of variants in gene combination CYP11B1, LOC106799833 reported as pathogenic for adrenal cortex disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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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.799+5G>C	rs193922542	0.00006
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
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.995G>A (p.Arg332Gln)	rs149881706	0.00002
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter)	rs1214983921	0.00001
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.595+1G>A	rs1264073726	0.00001
NM_000497.4(CYP11B1):c.596-2A>T	rs775946442	0.00001
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)	rs1421641874	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_000497.3:c.[1024C>T];[1012dup]
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.1150_1153del (p.Arg384fs)
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	rs758714890
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)	rs1256580853
NM_000497.4(CYP11B1):c.1201-1G>A	rs1437397442
NM_000497.4(CYP11B1):c.1214del (p.Val405fs)	rs2130266809
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs)	rs1816889095
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.1358G>A (p.Arg453Gln)	rs1447069098
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G	rs1586557065
NM_000497.4(CYP11B1):c.1398+5G>C	rs1563867837
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)	rs1816868757
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)	rs104894067
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)	rs1554653185
NM_000497.4(CYP11B1):c.595+16G>T	rs1365173817
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)	rs866430018
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)	rs1554652999
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)	rs1554652998
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)	rs2130274854
NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter)	rs2130273191
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	rs104894061
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)	rs1326688256

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