ClinVar Miner

List of variants reported as pathogenic for Familial X-linked hypophosphatemic vitamin D refractory rickets by MVZ Medizinische Genetik Mainz

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1005dup (p.Ser336fs)	rs2519779850
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)	rs2518664625
NM_000444.6(PHEX):c.202del (p.Ser68fs)	rs1927568383

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