ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as pathogenic for X-linked dominant disease

Included ClinVar conditions (1):
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Gene type:
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Total variants: 46
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HGVS dbSNP
NC_000023.11:g.(22190503_22212930)_(22247953_?)del
NC_000023.11:g.(22219104_22221612)_(22247953_?)del
NC_000023.11:g.(22221744_22226442)_(22247953_?)del
NC_000023.11:g.(22227612_22245332)_(22247953_?)del
NG_007563.2:g.(140587_150469)_(185156_191232)del
NG_007563.2:g.(191301_193809)_(193941_198639)del
NG_007563.2:g.102280_204235dup
NG_007563.2:g.196053_198697del2645
NG_007563.2:g.201027_219459del18433
NM_000444.4(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.4(PHEX):c.1779_1782dupTGAT (p.Lys595Terfs) rs886041364
NM_000444.4(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.4(PHEX):c.2071-1G>A rs886041374
NM_000444.4(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.4(PHEX):c.2193delT (p.Phe731Leufs) rs886041631
NM_000444.4(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.5(PHEX):c.1587-2145_1645+3342del
NM_000444.5(PHEX):c.1649_1650delTT (p.Phe550Serfs) rs1556128043
NM_000444.5(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.5(PHEX):c.1700+2T>C rs1556128253
NM_000444.5(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.5(PHEX):c.1718C>A (p.Ala573Asp) rs1556135308
NM_000444.5(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.5(PHEX):c.1735G>C (p.Gly579Arg) rs875989883
NM_000444.5(PHEX):c.1753G>A (p.Gly585Arg) rs1556135467
NM_000444.5(PHEX):c.1754G>A (p.Gly585Glu) rs1556135477
NM_000444.5(PHEX):c.1763A>G (p.Asn588Ser) rs772130004
NM_000444.5(PHEX):c.1768+1G>A rs886041296
NM_000444.5(PHEX):c.1775_1778dup (p.Tyr593Terfs) rs1556138407
NM_000444.5(PHEX):c.1832_1833delTT (p.Phe611Terfs) rs1556138590
NM_000444.5(PHEX):c.1885_1888dup (p.Ala630Glufs) rs1556138742
NM_000444.5(PHEX):c.1910dup (p.Arg638Glufs) rs1556148392
NM_000444.5(PHEX):c.1936G>C (p.Asp646His) rs1556148532
NM_000444.5(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.5(PHEX):c.1965+1G>A rs1240767654
NM_000444.5(PHEX):c.1971C>G (p.Tyr657Ter) rs1556151071
NM_000444.5(PHEX):c.1986_1989dup (p.Arg664Terfs) rs1556151137
NM_000444.5(PHEX):c.2044C>T (p.Gln682Ter) rs1556151545
NM_000444.5(PHEX):c.2078G>A (p.Cys693Tyr) rs1556200989
NM_000444.5(PHEX):c.2093delC (p.Pro698Glnfs) rs1556201034
NM_000444.5(PHEX):c.2147+3A>T rs1556201217
NM_000444.5(PHEX):c.2148-2A>G rs1556205815
NM_000444.5(PHEX):c.2198G>C (p.Cys733Ser) rs1057517981
NM_000444.5(PHEX):c.2199_2217dup (p.Asn740Serfs) rs1556206093
NM_000444.5(PHEX):c.2239_*2delCGACTCTGGTAGCT rs1556206335
NM_000444.5(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403

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