List of variants reported as likely pathogenic for adrenocortical insufficiency by Baylor Genetics

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		ClinVar version:

Total variants: 76

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)	rs142484434	0.00014
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	rs193922538	0.00008
NM_000497.4(CYP11B1):c.799+5G>C	rs193922542	0.00006
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)	rs375833424	0.00005
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_000102.4(CYP17A1):c.1019G>A (p.Arg340His)	rs765987481	0.00003
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)	rs879802265	0.00003
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	rs104894155	0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)	rs764251434	0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)	rs149881706	0.00002
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)	rs760880418	0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)	rs1412048304	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)	rs1489638195	0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)	rs267601810	0.00001
NM_000497.4(CYP11B1):c.596-2A>T	rs775946442	0.00001
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)	rs367833709
NM_000102.4(CYP17A1):c.1243+5G>A	rs1564777724
NM_000102.4(CYP17A1):c.1244-1G>C
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)	rs371825363
NM_000102.4(CYP17A1):c.1346G>A (p.Arg449His)
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys)	rs1250463562
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
NM_000102.4(CYP17A1):c.298-2A>G
NM_000102.4(CYP17A1):c.321del (p.Asn107fs)
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)	rs1844148108
NM_000102.4(CYP17A1):c.336dup (p.Ala113fs)
NM_000102.4(CYP17A1):c.418C>T (p.Gln140Ter)
NM_000102.4(CYP17A1):c.437-1G>A
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
NM_000102.4(CYP17A1):c.666+2T>C
NM_000102.4(CYP17A1):c.667-13_667-10del	rs1844127277
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)	rs1458440922
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)	rs766331452
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.1122-2A>G
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)	rs1816901292
NM_000497.4(CYP11B1):c.1136del (p.Gly379fs)
NM_000497.4(CYP11B1):c.1200+1G>T
NM_000497.4(CYP11B1):c.1201-9C>A
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
NM_000497.4(CYP11B1):c.1399-1G>C
NM_000497.4(CYP11B1):c.228del (p.Ile78fs)
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
NM_000497.4(CYP11B1):c.395+1G>C	rs1554653514
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)	rs142484434
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)	rs2130273520
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)	rs769310764
NM_000497.4(CYP11B1):c.954+1del
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000497.4(CYP11B1):c.955-2A>G

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