ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.134dup (p.Leu45fs)
NM_000444.6(PHEX):c.1403del (p.Lys468fs)
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000444.6(PHEX):c.2058_2061dup (p.Tyr688fs) rs2147184823
NM_000444.6(PHEX):c.2147+1197A>G
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) rs1057517981

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