ClinVar Miner

List of variants studied for hereditary hypophosphatemic rickets by Baylor Genetics

Included ClinVar conditions (12):

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
Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal recessive hypophosphatemic bone disease
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, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Vitamin D-dependent rickets, type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.304+2T>C	rs201293634	0.00004
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	rs137853271
NM_000444.6(PHEX):c.1966-1G>T	rs1064795147
NM_000444.6(PHEX):c.733-1G>C	rs886041223
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)	rs151340626

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