ClinVar Miner

List of variants reported as likely pathogenic for primary adrenal insufficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000500.9(CYP21A2):c.-113G>A rs1246774295 0.00251
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) rs758658540 0.00016
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr) rs28931607 0.00002
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) rs104894139 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) rs5282 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile) rs193922539 0.00001
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) rs370266763 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NC_000006.11:g.(32006589_32006870)_(32007026_32007132)dup
NC_000006.11:g.(32006589_32006870)_(32007983_32008182)dup
NC_000006.11:g.(32007425_32007525)_(32007613_32007781)del
NM_000102.4(CYP17A1):c.1063G>A (p.Ala355Thr)
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu) rs752540777
NM_000102.4(CYP17A1):c.667-13_667-10del rs1844127277
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)
NM_000198.4(HSD3B2):c.320T>A (p.Leu107Gln)
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.306+1G>A
NM_000349.3(STAR):c.544C>A (p.Arg182Ser)
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys)
NM_000497.4(CYP11B1):c.396-2A>G
NM_000497.4(CYP11B1):c.595+16G>T rs1365173817
NM_000497.4(CYP11B1):c.595+1G>C
NM_000497.4(CYP11B1):c.596-2A>G
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
NM_000497.4(CYP11B1):c.799+2T>C rs193922541
NM_000497.4(CYP11B1):c.950A>T (p.Asp317Val)
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
NM_000500.9(CYP21A2):c.449G>C (p.Arg150Pro)
NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
NM_001395413.1(POR):c.821+1G>A
NM_015665.6(AAAS):c.810+1G>A

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