List of variants in gene ENPP1 reported as uncertain significance for Hypophosphatemic Rickets, Recessive

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.*1257del	rs886061072	0.00001
NM_006208.3(ENPP1):c.*459G>T	rs886061068	0.00001
NM_006208.3(ENPP1):c.1236_1238del	rs138970138
NM_006208.3(ENPP1):c.*1256dup	rs34545497
NM_006208.3(ENPP1):c.*3468del	rs564304453
NM_006208.3(ENPP1):c.313+8_313+9insTT	rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT	rs879243445
NM_006208.3(ENPP1):c.313+9GT[16]	rs59956343
NM_006208.3(ENPP1):c.313+9GT[17]	rs59956343
NM_006208.3(ENPP1):c.313+9GT[20]	rs59956343
NM_006208.3(ENPP1):c.313+9GT[22]	rs59956343
NM_006208.3(ENPP1):c.313+9_313+10insGGTG	rs536901634

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.