ClinVar Miner

List of variants studied for autosomal recessive hypophosphatemic rickets by UniProtKB/Swiss-Prot

Included ClinVar conditions (5):

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
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)	rs121908249	0.00001
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)	rs121908248

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