ClinVar Miner

List of variants studied for hereditary hypophosphatemic rickets by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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: 13

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 Xp22.12-22.11(chrX:21743750-22114586)x3
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)	rs2147086366
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)	rs2147086514
NM_000444.6(PHEX):c.142dup (p.Gln48fs)	rs2146979520
NM_000444.6(PHEX):c.1482+5G>C	rs1269067103
NM_000444.6(PHEX):c.1586_1586+1del	rs886041362
NM_000444.6(PHEX):c.1768+5G>A	rs1057524608
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu)	rs1057517798
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	rs886041227
NM_000444.6(PHEX):c.350-1G>A	rs2147019098
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)	rs770573978
NM_001177316.2(SLC34A3):c.1336-11_1336-1del	rs2131423939
NM_020638.3(FGF23):c.515_529del (p.Pro172_Arg176del)

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