ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by OMIM

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Total variants: 11
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HGVS dbSNP
NM_000444.4(PHEX):c.[755T>C;759G>A] rs0
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.849+1268G>T rs919011936
PHEX, 2-BP DEL, 675TC rs0
PHEX, A-G, NT-429 rs0
PHEX, IVS1AS, G-A, -1 rs0
PHEX, IVS1AS, G-C, -1 rs0
PHEX, IVS4, T-C, +6 rs0

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