ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
NM_000444.6(PHEX):c.1646-2A>C rs2147164011
NM_000444.6(PHEX):c.1646-2A>G rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) rs1556128043
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1700+2T>C rs1556128253
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) rs1556135308
NM_000444.6(PHEX):c.1718del (p.Ala573fs) rs2147171155
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) rs1556135467
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) rs1556135477
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) rs772130004
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1768+1G>C rs886041296
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1769-1G>A rs1602405079
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) rs886041364
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer) rs1556138590
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs) rs2147174569
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) rs1556138742
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2113_1957del
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1910dup (p.Arg638fs) rs1556148392
NM_000444.6(PHEX):c.1920_1929del (p.Gly641fs) rs2147183119
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) rs1556148532
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.1965+1del rs1569434045
NM_000444.6(PHEX):c.1966-1G>A rs1064795147
NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys) rs2147184570
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) rs1556151071
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) rs1556151545
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.2071-1G>C rs886041374
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) rs1556200989
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs) rs2147213985
NM_000444.6(PHEX):c.2093del (p.Pro698fs) rs1556201034
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs) rs2147214136
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.2147+3A>T rs1556201217
NM_000444.6(PHEX):c.2148-2A>G rs1556205815
NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter) rs1057518896
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) rs1057517981
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) rs1556206093
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs) rs1556206335
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.