List of variants reported as likely pathogenic for adrenal gland disorder by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 118

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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.660G>A (p.Trp220Ter)	rs879802265	0.00003
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
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_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
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.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_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_017841.4(SDHAF2):c.260+3A>G	rs1445986287	0.00001
NM_017841.4(SDHAF2):c.371-2A>G	rs375280597	0.00001
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)	rs2091749146
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)	rs1603231784
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)	rs2148388986
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)	rs1569540695
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
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.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.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.334_336dup (p.Ile112dup)	rs1844148108
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.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.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_000546.6(TP53):c.1031T>C (p.Leu344Pro)	rs121912662
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val)	rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	rs747342068
NM_000546.6(TP53):c.427G>A (p.Val143Met)	rs587782620
NM_000546.6(TP53):c.476C>T (p.Ala159Val)	rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His)	rs786203436
NM_000546.6(TP53):c.518T>G (p.Val173Gly)	rs1057519747
NM_000546.6(TP53):c.533A>C (p.His178Pro)	rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp)	rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu)	rs1057519991
NM_000546.6(TP53):c.559+1G>A	rs1131691042
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met)	rs730882025
NM_000546.6(TP53):c.658T>C (p.Tyr220His)	rs530941076
NM_000546.6(TP53):c.711G>T (p.Met237Ile)	rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)	rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)	rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	rs11540652
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	rs1057519986
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	rs763098116
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	rs587781525
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)	rs1114167542
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	rs778670301
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_001370259.2(MEN1):c.970del (p.Leu324fs)	rs1114167508
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	rs876658477
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	rs1336819076
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)	rs753554501
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)	rs1456129845

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