ClinVar Miner

List of variants studied for rickets by Centogene AG - the Rare Disease Company

Included ClinVar conditions (21):

Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal recessive hypophosphatemic bone disease
Bowing of the legs; Hypophosphatemic rickets; Lower limb pain
Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Familial X-linked hypophosphatemic vitamin D refractory rickets
Hypophosphatemic rickets
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Metabolic acidosis; Renal tubular acidosis; Rickets
Parathyroid gland adenoma; Hypophosphatemic rickets
Vitamin D hydroxylation-deficient rickets, type 1B
Vitamin D-dependent rickets
Vitamin D-dependent rickets type II with alopecia
Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1A
Vitamin D-dependent rickets, type 2
Vitamin D-dependent rickets, type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.448+1G>A	rs150841256	0.00017
NM_000444.6(PHEX):c.*231A>G	rs946863800	0.00001

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.