ClinVar Miner

List of variants reported as likely pathogenic for parathyroid gland disorder by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000516.7(GNAS):c.31_38del (p.Asp11fs)
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_004752.4(GCM2):c.1A>G (p.Met1Val) rs2113257238
NM_018646.6(TRPV6):c.715_724del (p.Val239fs)

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.