ClinVar Miner

List of variants studied for Acrodysostosis 1 with or without hormone resistance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.*795G>T rs150031305 0.00544
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_002734.5(PRKAR1A):c.*2844A>C rs144560276 0.00147
NM_002734.5(PRKAR1A):c.*1057G>A rs373618236 0.00085
NM_002734.5(PRKAR1A):c.*2197G>A rs533508012 0.00058
NM_002734.5(PRKAR1A):c.-16C>A rs886053305 0.00057
NM_002734.5(PRKAR1A):c.*893G>C rs186568426 0.00049
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_002734.5(PRKAR1A):c.*722A>G rs555951287 0.00033
NM_002734.5(PRKAR1A):c.-25C>T rs546338099 0.00026
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) rs200592054 0.00026
NM_002734.5(PRKAR1A):c.*1687T>C rs986574420 0.00024
NM_002734.5(PRKAR1A):c.*1346A>G rs545417998 0.00021
NM_002734.5(PRKAR1A):c.*233C>T rs531560526 0.00021
NM_002734.5(PRKAR1A):c.*384C>T rs142203044 0.00021
NM_002734.5(PRKAR1A):c.*724T>A rs746409603 0.00015
NM_002734.5(PRKAR1A):c.*2196C>T rs886053320 0.00014
NM_002734.5(PRKAR1A):c.*1606A>G rs144632545 0.00013
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) rs141432364 0.00012
NM_002734.5(PRKAR1A):c.*1014A>G rs886053311 0.00009
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_002734.5(PRKAR1A):c.*1062A>G rs752303671 0.00007
NM_002734.5(PRKAR1A):c.*331G>A rs1001484586 0.00007
NM_002734.5(PRKAR1A):c.*156C>T rs535007635 0.00006
NM_002734.5(PRKAR1A):c.*1085G>A rs994798970 0.00004
NM_002734.5(PRKAR1A):c.*1487C>T rs886053314 0.00004
NM_002734.5(PRKAR1A):c.*2940G>A rs2086029597 0.00004
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) rs117639566 0.00004
NM_002734.5(PRKAR1A):c.*299T>G rs569225886 0.00003
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) rs753621663 0.00003
NM_002734.5(PRKAR1A):c.-6-7C>T rs373646911 0.00002
NM_002734.5(PRKAR1A):c.*526G>A rs886053308 0.00001
NM_002734.5(PRKAR1A):c.*535T>G rs1329748321 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) rs1467886544 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_002734.4(PRKAR1A):c.*2991G>T rs2086031493
NM_002734.5(PRKAR1A):c.*1003C>T rs2085973222
NM_002734.5(PRKAR1A):c.*1111C>G rs2085976100
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*1838A>T rs2085997664
NM_002734.5(PRKAR1A):c.*1839G>A rs886053316
NM_002734.5(PRKAR1A):c.*1842A>T rs886053317
NM_002734.5(PRKAR1A):c.*1949G>T rs1600501089
NM_002734.5(PRKAR1A):c.*2018C>T rs540185706
NM_002734.5(PRKAR1A):c.*2067T>C rs886053318
NM_002734.5(PRKAR1A):c.*2072G>A rs886053319
NM_002734.5(PRKAR1A):c.*2089A>G rs577964161
NM_002734.5(PRKAR1A):c.*2114G>A rs573817614
NM_002734.5(PRKAR1A):c.*2152T>C rs2086006345
NM_002734.5(PRKAR1A):c.*2212C>T rs545517617
NM_002734.5(PRKAR1A):c.*389T>G rs886053307
NM_002734.5(PRKAR1A):c.*560G>A rs1029548849
NM_002734.5(PRKAR1A):c.*609C>G rs1307801222
NM_002734.5(PRKAR1A):c.*672T>C rs546125048
NM_002734.5(PRKAR1A):c.*704T>G rs886053310
NM_002734.5(PRKAR1A):c.*812A>C rs116996069
NM_002734.5(PRKAR1A):c.*812A>G rs116996069
NM_002734.5(PRKAR1A):c.-75G>T rs559757120
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_212472.2(PRKAR1A):c.-200T>A rs534001445

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.