ClinVar Miner

List of variants studied for autosomal recessive hypophosphatemic rickets by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_004407.4(DMP1):c.55-1G>C	rs587776697	0.00002
NM_004407.4(DMP1):c.362del (p.Pro121fs)	rs587776696
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs)	rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.430+1del	rs1554278331
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)	rs121908248

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