List of variants in gene ENPP1 reported as likely benign for Hypophosphatemic rickets, autosomal recessive, 2

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)	rs28933977	0.02826
NM_006208.3(ENPP1):c.-10C>T	rs750410843	0.02463
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)	rs115371819	0.01496
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)	rs79079368	0.01455
NM_006208.3(ENPP1):c.*2076C>T	rs117531639	0.01090
NM_006208.3(ENPP1):c.*1122A>G	rs148507889	0.00539
NM_006208.3(ENPP1):c.*3176T>A	rs114333444	0.00525
NM_006208.3(ENPP1):c.*1038T>A	rs79214335	0.00496
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)	rs8192683	0.00299
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)	rs73541508	0.00178
NM_006208.3(ENPP1):c.*3528C>T	rs557822175	0.00161
NM_006208.3(ENPP1):c.*1307T>G	rs189263683	0.00117
NM_006208.3(ENPP1):c.*4015G>A	rs531152298	0.00116
NM_006208.3(ENPP1):c.*804A>G	rs114078048	0.00098
NM_006208.3(ENPP1):c.*2698G>A	rs146550172	0.00023
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)	rs200239821	0.00021
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)	rs548504035	0.00001
NM_006208.3(ENPP1):c.*150G>A	rs571779819

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.