ClinVar Miner

List of variants in gene AAAS studied for adrenocortical insufficiency

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.1088-59A>G rs4759287 0.96514
NM_015665.6(AAAS):c.251+59A>C rs4759232 0.94301
NM_015665.6(AAAS):c.689+71C>G rs7953255 0.93983
NM_015665.6(AAAS):c.252-142C>A rs7960963 0.93441
NM_015665.6(AAAS):c.124-33A>C rs7298879 0.92298
NM_015665.6(AAAS):c.124-20T>C rs4759231 0.92286
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353 0.07449
NM_015665.6(AAAS):c.1557T>C (p.Thr519=) rs112987708 0.02027
NM_015665.6(AAAS):c.1515T>C (p.Pro505=) rs35282133 0.00843
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg) rs34451260 0.00840
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466 0.00392
NM_015665.5(AAAS):c.*32C>T rs138994144 0.00246
NM_015665.6(AAAS):c.1249+8G>A rs200834285 0.00155
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822 0.00039
NM_015665.6(AAAS):c.327G>T (p.Thr109=) rs190876509 0.00038
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser) rs144873582 0.00031
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293 0.00030
NM_015665.6(AAAS):c.1416+8C>T rs370325323 0.00027
NM_015665.6(AAAS):c.996+12C>T rs200312077 0.00019
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe) rs368094339 0.00014
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966 0.00014
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232 0.00009
NM_015665.6(AAAS):c.308T>C (p.Val103Ala) rs201692749 0.00008
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218 0.00007
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935 0.00007
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp) rs182489063 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649 0.00004
NM_015665.6(AAAS):c.1191dup (p.Glu398fs) rs746305979 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718 0.00003
NM_015665.6(AAAS):c.307+13C>T rs761242924 0.00003
NM_015665.6(AAAS):c.362C>T (p.Ala121Val) rs201451157 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015665.6(AAAS):c.667G>C (p.Asp223His) rs141013947 0.00003
NM_015665.6(AAAS):c.819T>C (p.Asp273=) rs149487112 0.00003
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211 0.00003
NM_015665.6(AAAS):c.234G>A (p.Lys78=) rs145519240 0.00002
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650 0.00002
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp) rs779681475 0.00002
NM_015665.6(AAAS):c.1087+1G>A rs1035139364 0.00001
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652 0.00001
NM_015665.6(AAAS):c.1229G>A (p.Arg410His) rs768786904 0.00001
NM_015665.6(AAAS):c.124-4A>G rs886049651 0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041 0.00001
NM_015665.6(AAAS):c.1417-14T>G rs748004231 0.00001
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu) rs751967235 0.00001
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter) rs754078574 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_015665.6(AAAS):c.721C>T (p.His241Tyr) rs1944356188 0.00001
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser) rs1745022731 0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_015665.6(AAAS):c.981A>G (p.Leu327=) rs1174765635 0.00001
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys) rs560069464 0.00001
NM_015665.5(AAAS):c.936_937delAG rs1592513048
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr) rs765757844
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs) rs2121081165
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1517C>G (p.Ala506Gly)
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015665.6(AAAS):c.211del (p.His71fs) rs765577880
NM_015665.6(AAAS):c.250del (p.Trp84fs) rs2136820957
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.281del (p.Asn94fs)
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
NM_015665.6(AAAS):c.327G>A (p.Thr109=) rs190876509
NM_015665.6(AAAS):c.399+1G>A rs2136811976
NM_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.446+1G>A rs2136811371
NM_015665.6(AAAS):c.500C>T (p.Ala167Val) rs1017700992
NM_015665.6(AAAS):c.56A>G (p.Tyr19Cys)
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter) rs758057774
NM_015665.6(AAAS):c.762del (p.Ser255fs) rs746057093
NM_015665.6(AAAS):c.781_782del (p.Ala262fs) rs2121089586
NM_015665.6(AAAS):c.810+1G>A
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter) rs1944347921
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter) rs766542823
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) rs1450008394
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter) rs774817639
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.936-5C>T rs1944343648
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.