ClinVar Miner

List of variants reported as pathogenic for autosomal recessive hypophosphatemic rickets by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):

Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)	rs374270497	0.00010
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	rs1782357136	0.00001
NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter)
NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser)

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.