ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu) rs1064794306
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro) rs760870713
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) rs1064795106
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp) rs1057517795
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val) rs1057517795
NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg) rs1131692029
NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu) rs1057517980
NM_000444.6(PHEX):c.1736G>T (p.Gly579Val) rs1057517980
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000444.6(PHEX):c.1768+2dup rs1057517796
NM_000444.6(PHEX):c.1768+5G>T rs1057524608
NM_000444.6(PHEX):c.1900-1G>A rs755406730
NM_000444.6(PHEX):c.1966-1G>C rs1064795147
NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg) rs1064794849
NM_000444.6(PHEX):c.2070+1G>A rs1057518596
NM_000444.6(PHEX):c.2070+5G>C rs1057517797
NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg) rs1064794999
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) rs1064796845
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs) rs1064796540
NM_000444.6(PHEX):c.2138del (p.Pro713fs) rs886041375
NM_000444.6(PHEX):c.2138dup (p.Gln714fs) rs886041375
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu) rs1057517798
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer) rs1556205980
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) rs1057517981
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2244_2245del (p.Trp749fs) rs1057517800

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