ClinVar Miner

List of variants reported as uncertain significance for hereditary hypophosphatemic rickets by Neuberg Centre For Genomic Medicine, NCGM

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.1060G>A (p.Val354Met)	rs534880363	0.00005
NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg)
NM_000444.6(PHEX):c.176G>T (p.Cys59Phe)
NM_000444.6(PHEX):c.2008G>A (p.Glu670Lys)	rs2147184646
NM_000444.6(PHEX):c.436+5G>A	rs1602273945
NM_001177316.2(SLC34A3):c.632G>A (p.Ser211Asn)

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