ClinVar Miner

List of variants reported as pathogenic for hereditary hypophosphatemic rickets by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.448+1G>A	rs150841256	0.00017
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter)	rs762610288	0.00001
NM_000444.6(PHEX):c.1790dup (p.Asn598fs)
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	rs886041227
NM_001177316.2(SLC34A3):c.1008_1009dup (p.Gly337fs)	rs2131415051
NM_001177316.2(SLC34A3):c.1622G>A (p.Trp541Ter)
NM_004407.4(DMP1):c.1A>G (p.Met1Val)	rs104893834

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