ClinVar Miner

List of variants reported as likely pathogenic for Familial X-linked hypophosphatemic vitamin D refractory rickets

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Total variants: 12
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HGVS dbSNP
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) rs1400504292
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1966-9_1966-7del rs1556151004
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) rs1569442206
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460

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