List of variants studied for parathyroid gland disorder by DASA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NM_000315.4(PTH):c.247C>T (p.Arg83Ter)	rs6256
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_001370259.2(MEN1):c.784-9G>A	rs794728625

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.