ClinVar Miner

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

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Total variants: 17
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NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) rs1064795106
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) rs1556135308
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.1750C>T (p.His584Tyr) rs1602402258
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
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.1951_1962dup (p.Glu652_Arg655dup) rs1602411514
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.2005_2016del (p.Glu669_Leu672del) rs1602412679
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) rs1556200989
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) rs1569442206
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) rs1057517981
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) rs1602442819
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) rs1602442871

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