ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as likely pathogenic by Mendelics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
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.1750C>T (p.His584Tyr) rs1602402258
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup) rs1602411514
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.2079C>G (p.Cys693Trp) rs1064796845
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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