ClinVar Miner

List of variants studied for rickets by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg)	rs121918237	0.00007
NM_001177316.2(SLC34A3):c.1335+2T>A	rs752222200	0.00002

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