ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_001276290.1(PRKAR1A):c.973+3439G>T
NM_002734.5(PRKAR1A):c.*1003C>T
NM_002734.5(PRKAR1A):c.*1057G>A
NM_002734.5(PRKAR1A):c.*1085G>A
NM_002734.5(PRKAR1A):c.*1111C>G
NM_002734.5(PRKAR1A):c.*1640C>T
NM_002734.5(PRKAR1A):c.*1687T>C
NM_002734.5(PRKAR1A):c.*1838A>T
NM_002734.5(PRKAR1A):c.*1949G>T
NM_002734.5(PRKAR1A):c.*2089A>G
NM_002734.5(PRKAR1A):c.*2114G>A
NM_002734.5(PRKAR1A):c.*2152T>C
NM_002734.5(PRKAR1A):c.*2212C>T
NM_002734.5(PRKAR1A):c.*233C>T
NM_002734.5(PRKAR1A):c.*2844A>C
NM_002734.5(PRKAR1A):c.*2940G>A
NM_002734.5(PRKAR1A):c.*299T>G
NM_002734.5(PRKAR1A):c.*331G>A
NM_002734.5(PRKAR1A):c.*384C>T
NM_002734.5(PRKAR1A):c.*535T>G
NM_002734.5(PRKAR1A):c.*560G>A
NM_002734.5(PRKAR1A):c.*609C>G
NM_002734.5(PRKAR1A):c.*812A>G
NM_002734.5(PRKAR1A):c.-11C>T
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)
NM_002734.5(PRKAR1A):c.770-8T>G
NM_212472.2(PRKAR1A):c.*1014A>G rs886053311
NM_212472.2(PRKAR1A):c.*1062A>G rs752303671
NM_212472.2(PRKAR1A):c.*1168A>T rs886053313
NM_212472.2(PRKAR1A):c.*1346A>G rs545417998
NM_212472.2(PRKAR1A):c.*1487C>T rs886053314
NM_212472.2(PRKAR1A):c.*156C>T rs535007635
NM_212472.2(PRKAR1A):c.*1606A>G rs144632545
NM_212472.2(PRKAR1A):c.*1839G>A rs886053316
NM_212472.2(PRKAR1A):c.*1842A>T rs886053317
NM_212472.2(PRKAR1A):c.*2018C>T rs540185706
NM_212472.2(PRKAR1A):c.*2067T>C rs886053318
NM_212472.2(PRKAR1A):c.*2072G>A rs886053319
NM_212472.2(PRKAR1A):c.*2196C>T rs886053320
NM_212472.2(PRKAR1A):c.*2197G>A rs533508012
NM_212472.2(PRKAR1A):c.*389T>G rs886053307
NM_212472.2(PRKAR1A):c.*526G>A rs886053308
NM_212472.2(PRKAR1A):c.*672T>C rs546125048
NM_212472.2(PRKAR1A):c.*704T>G rs886053310
NM_212472.2(PRKAR1A):c.*722A>G rs555951287
NM_212472.2(PRKAR1A):c.*724T>A rs746409603
NM_212472.2(PRKAR1A):c.*795G>T rs150031305
NM_212472.2(PRKAR1A):c.*812A>C rs116996069
NM_212472.2(PRKAR1A):c.*893G>C rs186568426
NM_212472.2(PRKAR1A):c.-106G>T rs559757120
NM_212472.2(PRKAR1A):c.-200T>A
NM_212472.2(PRKAR1A):c.-47C>A rs886053305
NM_212472.2(PRKAR1A):c.-56C>T rs546338099
NM_212472.2(PRKAR1A):c.-6-7C>T rs373646911
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_212472.2(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_212472.2(PRKAR1A):c.440+15T>C rs78183210
NM_212472.2(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_212472.2(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_212472.2(PRKAR1A):c.762T>C (p.Ser254=) rs753621663
NM_212472.2(PRKAR1A):c.770-9G>T rs562094333

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.