List of variants reported as likely benign for Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type by Fulgent Genetics, Fulgent Genetics

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000316.3(PTH1R):c.1395+15G>A	rs151077141	0.00747
NM_000316.3(PTH1R):c.216G>A (p.Ala72=)	rs116789130	0.00466
NM_000316.3(PTH1R):c.128G>A (p.Arg43His)	rs141466964	0.00237
NM_000316.3(PTH1R):c.75+12G>A	rs200603325	0.00081
NM_000316.3(PTH1R):c.375G>A (p.Glu125=)	rs138339848	0.00034
NM_000316.3(PTH1R):c.1212-18C>T	rs200401411	0.00008
NM_000316.3(PTH1R):c.1254C>T (p.Gly418=)	rs750736467	0.00006
NM_000316.3(PTH1R):c.1396-19G>A	rs370461607	0.00003
NM_000316.3(PTH1R):c.1117-8T>C	rs749389822	0.00001
NM_000316.3(PTH1R):c.615T>C (p.Ala205=)	rs200829369	0.00001
NM_000316.3(PTH1R):c.638+12G>A	rs375241177
NM_000316.3(PTH1R):c.638+12G>C	rs375241177
NM_000316.3(PTH1R):c.771C>A (p.Thr257=)	rs201016660

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.