ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as uncertain significance for Familial X-linked hypophosphatemic vitamin D refractory rickets

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Total variants: 8
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NM_000444.6(PHEX):c.*227C>G rs765787001
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.*339A>G rs773553690
NM_000444.6(PHEX):c.*360A>C rs1012718966
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) rs0

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