List of variants in gene PRKAR1A reported as benign for Acrodysostosis 1 with or without hormone resistance

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002734.5(PRKAR1A):c.770-24G>A	rs2302230	0.73571
NM_002734.5(PRKAR1A):c.892-34G>T	rs2302231	0.71288
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.678C>T (p.Ile226=)	rs200592054	0.00026
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.546G>A (p.Thr182=)	rs117639566	0.00004
NM_002734.5(PRKAR1A):c.*2212C>T	rs545517617
NM_002734.5(PRKAR1A):c.*672T>C	rs546125048
NM_002734.5(PRKAR1A):c.-75G>T	rs559757120
NM_002734.5(PRKAR1A):c.349-5dup	rs3841514
NM_002734.5(PRKAR1A):c.440+15T>C	rs78183210
NM_002734.5(PRKAR1A):c.770-9G>T	rs562094333
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His)	rs2143389718

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.