ClinVar Miner

List of variants in gene LOC130007784, VDR studied for rickets

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001017535.1(VDR):c.-250G>A	rs886049440	0.00004
NM_001017535.1(VDR):c.-263A>C	rs963429243

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