ClinVar Miner

List of variants reported as likely benign for autosomal dominant hypophosphatemic rickets

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020638.3(FGF23):c.*388G>A rs13312795 0.00731
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_020638.3(FGF23):c.342G>A (p.Arg114=) rs138972495 0.00048
NM_020638.3(FGF23):c.*1398T>A rs531815578 0.00019
NM_020638.3(FGF23):c.*998C>G rs71583766 0.00017
NM_020638.3(FGF23):c.249G>A (p.Val83=) rs753676774 0.00002
NM_020638.3(FGF23):c.138A>G (p.Thr46=) rs368115734 0.00001
NM_020638.3(FGF23):c.51C>T (p.Cys17=) rs752187740 0.00001
NM_020638.3(FGF23):c.315+15del rs771309899
NM_020638.3(FGF23):c.555G>A (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398

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.